View all transcript variants in gene AVP

Information The variants shown are described using the NM_000490.4 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA 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
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