Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the protein's function, in the format Reported/Curator concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).
RNA change: Description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
- g.12345678C>T
- g.12345678_12345890del
- g.12345678_12345890dup
Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).
Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 Published as
|

 RNA change
|

 Protein
|

 DNA change (genomic) (hg38)
|

 Published as
|

 Reference
|

 DB-ID
|

 Frequency
|
 Variant remarks
|

 Owner
|
+?/+ |
1 |
c.-33_4del |
c.1-33_C4del37nt |
r.(?) |
p.(?) |
g.3084671_3084707del |
- |
Llindenthal et al. (2013 |
AVP_000071 |
- |
Found in all 9 symptomatic individuals; not found in 2 unaffected sisters of proband. |
LOVD |
+?/+ |
5' UTR |
c.-3A>C |
- |
r.(?) |
p.(?) |
g.3084677T>G |
- |
Ilhan et al. (2016) |
AVP_000050 |
- |
Mutation found in 4-of-4 affected, 0-of-10 unaffected. |
LOVD |
+?/+ |
2 |
c.151_(c.495+10051)del |
10,396 bp deletion; Arg51fs |
r.(?) |
p.(?) |
g.3083208_3093603del |
235 nt downstream of OXT exon-3 through AVP exon-3, intron-2, exon-2 except for 31 proximal nts |
Christensen et al. (2013 |
AVP_000073 |
- |
- |
LOVD |
./. |
1 |
c.= |
- |
r.(=) |
p.(=) |
g.= |
Variant not detected. |
Ye et al. (2005) |
AVP_000058 |
- |
Variant not detected in the coding, promoter & intronic regions, in the intergenic region between AVP and oxytocin, or in the coding regions of UBCE7IP5. |
LOVD |
./. |
1 |
c.= |
- |
r.(=) |
p.(=) |
g.= |
Variant not detected. |
Tian et al. (2016) |
AVP_000058 |
- |
Need to confirm if a deletion was ruled out. |
LOVD |
+?/+ |
1 |
c.1A>G |
- |
r.? |
p.? |
g.3084674T>C |
g.225A>G in M11166.1; p.(M1_T4del) |
Christensen et al. (2004) |
AVP_000028 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.292T>G |
- |
r.(?) |
p.(Cys98Gly) |
g.3083007A>C |
g.1665T>G (?); assume g.1889T>G in M11166.1 |
DiMeglio et al. (2001) |
AVP_000036 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
1 |
c.2del |
- |
r.? |
p.? |
g.3084673del |
p.(Met1_Thr4del) |
Tian et al. (2016) |
AVP_000084 |
- |
Variant found in 5-of-5 affected individuals. |
LOVD |
+?/+ |
2 |
c.295G>C |
- |
r.(?) |
p.(Ala99Pro) |
g.3083004C>G |
g.1892G>C in M11166.1 |
Elias et al. (2003) |
AVP_000037 |
- |
Mutation found in 3-of-3 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
1 |
c.3delG |
- |
r.? |
p.? |
g.3084672delC |
g.227delG in M11166.1;p.(Met1_Thr4del) |
Rutishauser et al. (1996) |
AVP_000023 |
- |
Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.3G>A |
- |
r.? |
p.? |
g.3084672C>T |
g.227G>A in M11166.1; p.(M1_T4del) |
Christensen et al. (2004) |
AVP_000029 |
- |
Mutation found in 3-of-3 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
./. |
1 |
c.50C>A |
- |
r.(?) |
p.(Ser17Tyr) |
g.3084625G>T |
- |
Tian et al. (2016) |
AVP_000085 |
- |
Variant found in 2-of-2 affected individuals. |
LOVD |
+?/+ |
1 |
c.50C>T |
- |
r.(?) |
p.(Ser17Phe) |
g.3084625G>A |
g.274C>T in M11166.1 |
Rittig et al. (1996) |
AVP_000015 |
- |
Mutation found in 5-of-5 affected, 0-of-5 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.52_54del |
- |
r.(?) |
p.(Ser18del) |
g.3084621_3084623del |
g.276_278del in M11166.1 |
{DOI:Toustrup et al. (2018):10.1159/000477246} |
AVP_000061 |
- |
Variant found in 7-of-7 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.52_54del |
- |
r.(?) |
p.(Ser18del) |
g.3084621_3084623del |
- |
Perrotta et al. (2015) |
AVP_000061 |
- |
De novo mutation; not found in the parents or unaffected family members; not found in 400 control chromosomes. |
LOVD |
+?/+ |
1 |
c.52_54del |
- |
r.(?) |
p.(Ser18del) |
g.3084621_3084623del |
- |
Tian et al. (2016) |
AVP_000061 |
- |
Variant found in proband. |
LOVD |
+?/+ |
2 |
c.275G>A |
- |
r.(?) |
p.(Cys92Tyr) |
g.3083024C>T |
g.1873G>A (?); assume g.1872G>A in M11166.1 |
Grant et al. (1998) |
AVP_000042 |
- |
Mutation found in 2-of-2 affected, 0-of-2 unaffected individuals |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Calvo et al. (1998) |
AVP_000006 |
- |
- |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Boson et al. (2003) |
AVP_000006 |
- |
- |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Ito et al. (1993), Repaske et al. (1996) |
AVP_000006 |
- |
Not in 100 control chromosomes tested with Acc II restriction endonuclease analysis. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Rittig et al. (1996) |
AVP_000006 |
- |
Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Christensen et al. (2004) |
AVP_000006 |
- |
Mutation found in 2-of-2 affected, 0-of-2 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
Siggaard et al. (1999) |
AVP_000006 |
- |
- |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
- |
Cizmarova et al. (2013), Hrčková et al. (2016) |
AVP_000006 |
- |
Mutation found in 6-of-6 affected, 0-of-3 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
- |
Hrčková et al. (2016) |
AVP_000006 |
- |
Mutation found in 2-of-2 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
- |
Hrčková et al. (2016) |
AVP_000006 |
- |
Mutation found in 2-of-2 affected individuals and in 1 asymptomatic individual at the time of testing. |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
- |
Chitturi et al. (2008) |
AVP_000006 |
- |
Found in 4-of-4 affected, 1-of-5 unaffected individuals; the unaffected individual with the variant developed polyuria & polydipsia over the 4 months following testing. |
LOVD |
+?/+ |
2 |
c.175T>C |
- |
r.(?) |
p.(Cys59Arg) |
g.3083124A>G |
g.1772T>C in M11166.1 |
Hansen et al. (1997): Trends Endocrinol Metab 8:363-372 |
AVP_000043 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Heppner et al. (1998) |
AVP_000009 |
- |
- |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Rittig et al. (1996) |
AVP_000009 |
- |
Mutation found in 2-of-2 affected, 0-of=0 unaffected individuals. |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.279G>A in M11166.1 |
Rittig et al. (1996) |
AVP_000009 |
- |
Mutation found in 1-of-1 affected, 0-of-1 unaffecterd individuals. |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Christensen et al. (2004) |
AVP_000009 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Repaske et al. (1997) |
AVP_000009 |
- |
- |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Repaske et al. (1997) |
AVP_000009 |
- |
- |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
- |
Chitturi et al. (2008) |
AVP_000009 |
- |
Found in 3-of-3 affected individuals. |
LOVD |
+?/+ |
1 |
c.61T>C |
- |
r.(?) |
p.(Tyr21His) |
g.3084614A>G |
g.285T>C in M11166.1 |
Rittig et al. (2002) |
AVP_000026 |
- |
Not in 40 control chromosomes tested with Bam HI restriction endonuclease analysis. Possible Middle Eastern founder effect; see same mutation in Koufaris et al. (2015). |
LOVD |
+?/+ |
1 |
c.61T>C |
- |
r.(?) |
p.(Tyr21His) |
g.3084614A>G |
- |
Koufaris et al. (2015) |
AVP_000026 |
- |
Mutation in 4-of-4 affected individuals. Possible Middle Eastern founder effect; see same mutation in Rittig et al. (2002). |
LOVD |
+?/+ |
1 |
c.62A>C |
- |
r.(?) |
p.(Tyr21Ser) |
g.3084613T>G |
g.286A>C in M11166.1 |
Kobayashi et al. (2006) |
AVP_000060 |
- |
Mutation in 1-of-1 affected, 0-of-1 unaffected. Not found in 200 Japanese control chromosomes. |
LOVD |
+?/+ |
1 |
c.64_66del |
- |
r.(?) |
p.(Phe22del) |
g.3084609_3084611del |
g.233_235del |
Wahlstrom et al. (2004) |
AVP_000051 |
- |
- |
LOVD |
+?/+ |
1 |
c.77C>T |
- |
r.(?) |
p.(Pro26Leu) |
g.3084598G>A |
g.301C>T in M11166.1 |
Willcutts et al. (1999) |
AVP_000044 |
- |
Homozygous mutation found in 3 affected siblings and heterozygous in their parents. Founder effect: allele same as in Abu Libdeh et al. (2010). |
LOVD |
+?/+ |
1 |
c.77C>T |
c.301C>T |
r.(?) |
p.(Pro26Leu) |
g.3084598G>A |
- |
Bourdet et al. (2015) |
AVP_000044 |
- |
Mutation found in 1-of-1 affected and in his father. |
LOVD |
+?/+ |
1 |
c.77C>T |
- |
r.(?) |
p.(Pro26Leu) |
g.3084598G>A |
g.301C>T in M11166.1 |
Willcutts et al. (1999) |
AVP_000044 |
- |
Homozygous mutation found in 3 affected siblings and heterozygous in their parents. Founder effect: allele same as in Abu Libdeh et al. (2010). |
LOVD |
+?/+ |
1 |
c.77C>T |
- |
r.(?) |
p.(Pro26Leu) |
g.3084598G>A |
g.301C>T in M11166.1 |
Abu Libdeh et al. (2010) |
AVP_000044 |
- |
Homozygous mutation in 3 affected cousins; heterozygous mutation in their parents. Founder effect: allele same as in Willcutts et al. (1999). |
LOVD |
+?/+ |
i1 |
c.121-2A>G |
IVS1-2A>G |
r.spl? |
p.? |
g.3083180T>C |
- |
Bourdet et al. (2015) |
AVP_000069 |
- |
Mutation found in 1-of-1 affected and in his mother. |
LOVD |
+?/+ |
i1 |
c.121-2A>G |
IVS1-2A>G |
r.spl? |
p.? |
g.3083180T>C |
- |
Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished |
AVP_000069 |
- |
- |
Dr. Daniel Bichet |
+?/+ |
i1 |
c.121-2A>G |
IVS1-2A>G |
r.spl? |
p.? |
g.3083180T>C |
- |
Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished |
AVP_000069 |
- |
- |
Dr. Daniel Bichet |
+?/+ |
i1 |
c.121-2A>G |
IVS1-2A>G |
r.spl? |
p.? |
g.3083180T>C |
- |
Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished |
AVP_000069 |
- |
- |
Dr. Daniel Bichet |
+?/+ |
2 |
c.123C>G |
- |
r.(?) |
p.(Cys41Trp) |
g.3083176G>C |
g.1720C>G in M11166.1 |
Brachet et al. (2011) |
AVP_000064 |
- |
Mutation found in 3-of-3 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.127C>G |
- |
r.(?) |
p.(Pro43Ala) |
g.3083172G>C |
- |
Tian et al. (2016) |
AVP_000086 |
- |
Variant found in proband; not found in father; no information on mother. |
LOVD |
+?/+ |
2 |
c.132C>G |
- |
r.(?) |
p.(Cys44Trp) |
g.3083167G>C |
- |
Chitturi et al. (2008) |
AVP_000081 |
- |
Variant found in 2-of-2 affected individuals. |
LOVD |
+?/+ |
2 |
c.133G>C |
- |
r.(?) |
p.(Gly45Arg) |
g.3083166C>G |
g.1730G>C in M11166.1 |
Rittig et al. (1996) |
AVP_000016 |
- |
Mutation found in 3-of-3 affected, 0-of-4 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.133G>T |
- |
r.(?) |
p.(Gly45Cys) |
g.3083166C>A |
- |
Turkkahraman et al. (2015) |
AVP_000065 |
- |
Mutation found in 3-of-3 affected, 0-of-2 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.143G>T |
- |
r.(?) |
p.(Gly48Val) |
g.3083156C>A |
gGc-to-gTc; Gly17 of neurophysin-II |
Bahnsen et al. (1992) |
AVP_000001 |
- |
Not in 96 control chromosomes tested with Bgl I restriction endonuclease analysis. |
LOVD |
+?/+ |
2 |
c.143G>T |
- |
r.(?) |
p.(Gly48Val) |
g.3083156C>A |
g.1740G>T in M11166.1 |
Heppner et al. (1998) |
AVP_000001 |
- |
- |
LOVD |
+?/+ |
2 |
c.143G>T |
- |
r.(?) |
p.(Gly48Val) |
g.3083156C>A |
g.1516G>T in M11166.1 where 1=ATG |
Ye et al. (2013) |
AVP_000001 |
- |
Variant found in 8-of-8 affected, 0-of-4 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.151C>T |
- |
r.(?) |
p.(Arg51Cys) |
g.3083148G>A |
g.1748C>T in M11166.1 |
Rittig et al. (1996) |
AVP_000017 |
- |
Mutation found in 3-of-3 affected, 0-of-3 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.160G>A |
- |
r.(?) |
p.(Gly54Arg) |
g.3083139C>T |
g.1757G>A in M11166.1 |
Calvo et al. (1999) |
AVP_000007 |
- |
- |
LOVD |
+?/+ |
2 |
c.160G>C |
- |
r.(?) |
p.(Gly54Arg) |
g.3083139C>G |
g.1757G>C in M11166.1 |
Christensen et al. (2004) |
AVP_000034 |
- |
Mutation found in 2-of-2 affected, 0-of-1 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.160G>C |
- |
r.(?) |
p.(Gly54Arg) |
g.3083139C>G |
- |
Rutishauser et al. (2002) |
AVP_000034 |
- |
- |
LOVD |
+?/+ |
1 |
c.56C>T |
- |
r.(?) |
p.(Ala19Val) |
g.3084619G>A |
g.280C>T in M11166.1 |
Kanemitsu et al. (2002) |
AVP_000009 |
- |
Mutation found in 2-of-2 affected, 0-of-1 unaffected individuals |
LOVD |
+?/+ |
2 |
c.161G>A |
- |
r.(?) |
p.(Gly54Glu) |
g.3083138C>T |
- |
Stephen et al. (2012) |
AVP_000074 |
- |
Variant present in 4-of-4 affected individuals. |
LOVD |
+?/+ |
2 |
c.161G>T |
- |
r.(?) |
p.(Gly54Val) |
g.3083138C>A |
g.1758G>T in M11166.1 |
Gagliardi et al. (1997) |
AVP_000012 |
- |
Not in 70 control chromosomes tested with Msp I restriction endonuclease analysis. |
LOVD |
+?/+ |
2 |
c.164C>A |
- |
r.(?) |
p.(Pro55His) |
g.3083135G>T |
- |
Hrčková et al. (2016) |
AVP_000066 |
- |
Mutation found in 2-of-2 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.164C>T |
- |
r.(?) |
p.(Pro55Leu) |
g.3083135G>A |
g.1761C>T in M11166.1 |
Repaske & Browning (1994), Repaske et al. (1996) |
AVP_000014 |
- |
Mutation found in 5-of-5 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.173G>T |
- |
r.(?) |
p.(Cys58Phe) |
g.3083126C>A |
g.1770G>T in M11166.1 |
Wolf et al. (2003) |
AVP_000052 |
- |
- |
LOVD |
+?/+ |
2 |
c.173G>T |
- |
r.(?) |
p.(Cys58Phe) |
g.3083126C>A |
- |
Hrčková et al. (2016) |
AVP_000067 |
- |
Mutation found in 3-of-3 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.176G>A |
- |
r.(?) |
p.(Cys59Tyr) |
g.3083123C>T |
g.1773G>A in M11166.1 |
Skordis et al. (2000) |
AVP_000049 |
- |
- |
LOVD |
+?/+ |
2 |
c.188T>C |
- |
r.(?) |
p.(Leu63Pro) |
g.3083111A>G |
g.1785T>C in M11166.1 |
Birkegaard et al. (2013) |
AVP_000046 |
- |
- |
LOVD |
+?/+ |
2 |
c.192_193delinsAA |
c.[192C>A;193T>A] |
r.(?) |
p.(Cys65Ser) |
g.3083106_3083107delinsTT |
- |
Luo et al. (2012) |
AVP_000088 |
- |
Variant found in 3-of-3 affected, 0-of-3 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.177_179del |
p.(Cys59del;Ala60Trp) |
r.(?) |
p.(Cys59_Ala60delinsTrp) |
g.3083120_3083122del |
- |
Flück et al. (2001) |
AVP_000038 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
2 |
c.200T>C |
- |
r.(?) |
p.(Val67Ala) |
g.3083099A>G |
g.1797T>C in M11166.1 |
Christensen et al. (2004) |
AVP_000030 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.207_209del |
- |
r.(?) |
p.(Ala70del) |
g.3083090_3083092del |
- |
Deniz et al. (2015) |
AVP_000078 |
- |
Variant found in 9-of-9 affected. |
LOVD |
./. |
2 |
c.225C>G |
- |
r.(?) |
p.(Cys75Trp) |
g.3083074G>C |
- |
Wong et al. (2016) |
AVP_000070 |
- |
- |
LOVD |
+?/+ |
2 |
c.232G>A |
- |
r.(?) |
p.(Glu78Lys) |
g.3083067C>T |
g.1829G>A in M11166.1 |
Miyakoshi et al. (2004) |
AVP_000054 |
- |
- |
LOVD |
+?/+ |
2 |
c.232G>A |
- |
r.(?) |
p.(Glu78Lys) |
g.3083067C>T |
g.1829G>A in M11166.1 |
Brachet et al. (2011) |
AVP_000054 |
- |
Mutation found in 3-of-3 affected individuals. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_1829del in M11166.1 |
Yuasa et al. (1993) |
AVP_000002 |
- |
- |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1824_1826del in M11166.1 |
Rittig et al. (1996) |
AVP_000002 |
- |
Mutation found in 1-of-1 affected, 0-of-1 unaffecterd individuals. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_29delAGG in M11166.1 |
Christensen et al. (2004) |
AVP_000002 |
- |
Mutation found in 1-of-1 affected, 0-of-1 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_29delAGG in M11166.1 |
Christensen et al. (2004) |
AVP_000002 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_29delAGG in M11166.1 |
Christensen et al. (2004) |
AVP_000002 |
- |
Mutation found in 4-of-4 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_1829del in M11166.1 |
Mahoney et al. (2002) |
AVP_000002 |
- |
- |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1827_1829del in M11166.1 |
Ye et al. (2005) |
AVP_000002 |
- |
- |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
- |
Lee et al. (2008) |
AVP_000002 |
- |
Mutation found in 3-of-3 affected individuals. |
LOVD |
+?/+ |
2 |
c.232_234del |
- |
r.(?) |
p.(Glu78del) |
g.3083065_3083067del |
g.1824_1829del in M11166.1; error in Table 2 |
Chitturi et al. (2008); Ivan McGown, personal communication, 2018 |
AVP_000083 |
- |
Variant found in 1-of-1 affected individuals. |
LOVD |
+?/+ |
2 |
c.290G>C |
- |
r.(?) |
p.(Arg97Pro) |
g.3083009C>G |
g.1887G>C in M11166.1 |
Mundschenk et al. (2001) |
AVP_000045 |
- |
Mutation found in 4-of-4 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
1 |
c.55G>A |
- |
r.(?) |
p.(Ala19Thr) |
g.3084620C>T |
g.279G>A in M11166.1 |
McLeod et al. (1992), Krishnamani et al. (1993}, Repaske et al. (1996 |
AVP_000006 |
- |
Mutation found in 1-of-1 affected, 0-of-1 unaffected individuals |
LOVD |
+?/+ |
1 |
c.77C>T |
- |
r.(?) |
p.(Pro26Leu) |
g.3084598G>A |
g.301C>T in M11166.1 |
Abu Libdeh et al. (2010) |
AVP_000044 |
- |
Homozygous mutation in 3 affected cousins; heterozygous mutation in their parents. Founder effect: allele same as in Willcutts et al. (1999). |
LOVD |
+?/+ |
2 |
c.233A>G |
- |
r.(?) |
p.(Glu78Gly) |
g.3083066T>C |
g.1830A>G in M11166.1 |
Rittig et al. (1996) |
AVP_000011 |
- |
Mutation found in 5-of-5 affected, 0-of-5 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.233A>G |
- |
r.(?) |
p.(Glu78Gly) |
g.3083066T>C |
g.1830A>C in M11166.1 |
Christensen et al. (2004) |
AVP_000011 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals. Not found in 296 control chromosomes. |
LOVD |
+?/+ |
2 |
c.262G>A |
- |
r.(?) |
p.(Gly88Ser) |
g.3083037C>T |
g.1859G>A in M11166.1 |
Repaske et al. (1996) |
AVP_000010 |
- |
Mutation found in 1-of-1 affected, 0-of-0 unaffected individuals |
LOVD |
+?/+ |
2 |
c.242T>C |
- |
r.(?) |
p.(Leu81Pro) |
g.3083057A>G |
g.1839T>C in M11166.1 |
Rittig et al. (1996) |
AVP_000018 |
- |
Mutation found in 13-of-13 affected, 0-of-22 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.251C>T |
- |
r.(?) |
p.(Pro84Leu) |
g.3083048G>A |
g.1848C>T in M11166.1 |
Jendle et al. (2012) |
AVP_000080 |
- |
Variant found in 6-of-6 affected individuals. |
LOVD |
+?/+ |
2 |
c.262G>A |
- |
r.(?) |
p.(Gly88Ser) |
g.3083037C>T |
g.1859G>A in M11166.1 |
Ito et al. (1991), Repaske et al. (1996) |
AVP_000010 |
- |
Not in 70 control chromosomes tested with Msp I restriction endonuclease analysis. |
LOVD |
+?/+ |
2 |
c.262G>A |
- |
r.(?) |
p.(Gly88Ser) |
g.3083037C>T |
g.1859G>A in M11166.1 |
Rittig et al. (1996) |
AVP_000010 |
- |
Mutation found in 1-of-1 affected, 0-of-1 unaffecterd individuals. |
LOVD |
+?/+ |
2 |
c.262G>C |
- |
r.(?) |
p.(Gly88Arg) |
g.3083037C>G |
g.1859G>C in M11166.1 |
Rittig et al. (1996) |
AVP_000019 |
- |
Mutation found in 3-of-3 affected, 0-of-1 unaffected individuals. |
LOVD |
+?/+ |
2 |
c.263G>T |
- |
r.(?) |
p.(Gly88Val) |
g.3083036C>A |
g.1859G>T in M11166.1 (should be 1860) |
de Melo et al. (2008) |
AVP_000077 |
- |
Variant found in 10-of-10 affected, 0-of-5 unaffected. |
LOVD |
+?/+ |
2 |
c.263G>T |
Codon 88: GGC>GTC |
r.(?) |
p.(Gly88Val) |
g.3083036C>A |
- |
Duzenli et al. (2012) |
AVP_000076 |
- |
Variant found in proband. |
LOVD |
+?/+ |
2 |
c.263G>T |
- |
r.(?) |
p.(Gly88Val) |
g.3083036C>A |
- |
Bichet et al. (2016) |
AVP_000076 |
- |
- |
Dr. Daniel Bichet |
+?/+ |
2 |
c.275G>A |
- |
r.(?) |
p.(Cys92Tyr) |
g.3083024C>T |
- |
Rutishauser et al. (2002) |
AVP_000042 |
- |
- |
LOVD |
+?/+ |
2 |
c.275G>C |
- |
r.(?) |
p.(Cys92Ser) |
g.3083024C>G |
g.1872G>C in M11166.1 |
Rittig et al. (1996) |
AVP_000020 |
- |
Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. |
LOVD |