View unique variants in gene AVP

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

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
./. 2 1 c.= - r.(=) p.(=) g.= Variant not detected. Ye et al. (2005), Tian et al. (2016) AVP_000058 - Need to confirm if a deletion was ruled out., 1 more item LOVD
+?/+ 1 1 c.1A>G - r.? p.? g.3084674T>C g.225A>G in M11166.1; p.(M1_T4del) Christensen et al. (2004) AVP_000028 - 1 more item LOVD
+?/+ 1 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 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
+?/+ 1 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 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 1 c.3G>A - r.? p.? g.3084672C>T g.227G>A in M11166.1; p.(M1_T4del) Christensen et al. (2004) AVP_000029 - 1 more item LOVD
./. 1 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 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
+?/+ 3 1 c.52_54del - r.(?) p.(Ser18del) g.3084621_3084623del g.276_278del in M11166.1 {DOI:Toustrup et al. (2018):10.1159/000477246}, Perrotta et al. (2015), Tian et al. (2016) AVP_000061 - Variant found in 7-of-7 affected, 0-of-1 unaffected individuals., Variant found in proband., 1 more item LOVD
+?/+ 1 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
+?/+ 10 1 c.55G>A - r.(?) p.(Ala19Thr) g.3084620C>T g.279G>A in M11166.1, g.279G>A in M11166.1 Calvo et al. (1998), Boson et al. (2003), Ito et al. (1993), Repaske et al. (1996), 6 more items AVP_000006 - Not in 100 control chromosomes tested with Acc II restriction endonuclease analysis., 6 more items LOVD
+?/+ 1 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
+?/+ 7 1 c.56C>T - r.(?) p.(Ala19Val) g.3084619G>A g.280C>T in M11166.1, g.279G>A in M11166.1, g.280C>T in M11166.1 Heppner et al. (1998), Rittig et al. (1996), Christensen et al. (2004), Repaske et al. (1997), 1 more item AVP_000009 - Mutation found in 2-of-2 affected, 0-of=0 unaffected individuals., 3 more items LOVD
+?/+ 2 1 c.61T>C - r.(?) p.(Tyr21His) g.3084614A>G g.285T>C in M11166.1 Rittig et al. (2002), Koufaris et al. (2015) AVP_000026 - 2 more items LOVD
+?/+ 1 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 1 c.64_66del - r.(?) p.(Phe22del) g.3084609_3084611del g.233_235del Wahlstrom et al. (2004) AVP_000051 - - LOVD
+?/+ 4 1 c.77C>T c.301C>T r.(?) p.(Pro26Leu) g.3084598G>A g.301C>T in M11166.1 Willcutts et al. (1999), Bourdet et al. (2015), Abu Libdeh et al. (2010) AVP_000044 - Mutation found in 1-of-1 affected and in his father., 2 more items LOVD
+?/+ 4 i1 c.121-2A>G IVS1-2A>G r.spl? p.? g.3083180T>C - Bourdet et al. (2015), Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished AVP_000069 - Mutation found in 1-of-1 affected and in his mother. LOVD, Dr. Daniel Bichet
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
+?/+ 3 2 c.143G>T - r.(?) p.(Gly48Val) g.3083156C>A gGc-to-gTc; Gly17 of neurophysin-II, g.1740G>T in M11166.1, g.1516G>T in M11166.1 where 1=ATG Bahnsen et al. (1992), Heppner et al. (1998), Ye et al. (2013) AVP_000001 - Not in 96 control chromosomes tested with Bgl I restriction endonuclease analysis., 1 more item LOVD
+?/+ 1 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
+?/+ 1 2 c.160G>A - r.(?) p.(Gly54Arg) g.3083139C>T g.1757G>A in M11166.1 Calvo et al. (1999) AVP_000007 - - LOVD
+?/+ 2 2 c.160G>C - r.(?) p.(Gly54Arg) g.3083139C>G g.1757G>C in M11166.1 Christensen et al. (2004), Rutishauser et al. (2002) AVP_000034 - 1 more item LOVD
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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 2 c.173G>T - r.(?) p.(Cys58Phe) g.3083126C>A g.1770G>T in M11166.1 Wolf et al. (2003), Hrčková et al. (2016) AVP_000052, AVP_000067 - Mutation found in 3-of-3 affected, 0-of-1 unaffected individuals. LOVD
+?/+ 1 2 c.176G>A - r.(?) p.(Cys59Tyr) g.3083123C>T g.1773G>A in M11166.1 Skordis et al. (2000) AVP_000049 - - LOVD
+?/+ 1 2 c.188T>C - r.(?) p.(Leu63Pro) g.3083111A>G g.1785T>C in M11166.1 Birkegaard et al. (2013) AVP_000046 - - LOVD
+?/+ 1 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
+?/+ 1 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
+?/+ 1 2 c.200T>C - r.(?) p.(Val67Ala) g.3083099A>G g.1797T>C in M11166.1 Christensen et al. (2004) AVP_000030 - 1 more item LOVD
+?/+ 1 2 c.207_209del - r.(?) p.(Ala70del) g.3083090_3083092del - Deniz et al. (2015) AVP_000078 - Variant found in 9-of-9 affected. LOVD
./. 1 2 c.225C>G - r.(?) p.(Cys75Trp) g.3083074G>C - Wong et al. (2016) AVP_000070 - - LOVD
+?/+ 2 2 c.232G>A - r.(?) p.(Glu78Lys) g.3083067C>T g.1829G>A in M11166.1 Miyakoshi et al. (2004), Brachet et al. (2011) AVP_000054 - Mutation found in 3-of-3 affected individuals. LOVD
+?/+ 9 2 c.232_234del - r.(?) p.(Glu78del) g.3083065_3083067del g.1827_1829del in M11166.1, g.1824_1826del in M11166.1, g.1827_29delAGG in M11166.1, 1 more item Yuasa et al. (1993), Rittig et al. (1996), Christensen et al. (2004), Mahoney et al. (2002), 3 more items AVP_000002, AVP_000083 - Mutation found in 1-of-1 affected, 0-of-1 unaffecterd individuals., 5 more items LOVD
+?/+ 1 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 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 1 c.77C>T - r.(?) p.(Pro26Leu) g.3084598G>A g.301C>T in M11166.1 Abu Libdeh et al. (2010) AVP_000044 - 1 more item LOVD
+?/+ 2 2 c.233A>G - r.(?) p.(Glu78Gly) g.3083066T>C g.1830A>G in M11166.1, g.1830A>C in M11166.1 Rittig et al. (1996), Christensen et al. (2004) AVP_000011 - Mutation found in 5-of-5 affected, 0-of-5 unaffected individuals., 1 more item LOVD
+?/+ 1 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
+?/+ 1 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
+?/+ 1 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 2 c.262G>A - r.(?) p.(Gly88Ser) g.3083037C>T g.1859G>A in M11166.1 Ito et al. (1991), Repaske et al. (1996), Rittig et al. (1996) AVP_000010 - Not in 70 control chromosomes tested with Msp I restriction endonuclease analysis., 1 more item LOVD
+?/+ 1 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
+?/+ 3 2 c.263G>T Codon 88: GGC>GTC r.(?) p.(Gly88Val) g.3083036C>A g.1859G>T in M11166.1 (should be 1860) de Melo et al. (2008), Duzenli et al. (2012), Bichet et al. (2016) AVP_000077, AVP_000076 - Variant found in 10-of-10 affected, 0-of-5 unaffected., Variant found in proband. LOVD, Dr. Daniel Bichet
+?/+ 1 2 c.275G>A - r.(?) p.(Cys92Tyr) g.3083024C>T - Rutishauser et al. (2002) AVP_000042 - - LOVD
+?/+ 2 2 c.275G>C - r.(?) p.(Cys92Ser) g.3083024C>G g.1872G>C in M11166.1 Rittig et al. (1996), Bullmann et al. (2001) AVP_000020 - Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals., 1 more item LOVD
+?/+ 3 2 c.276C>A - r.(?) p.(Cys92*) g.3083023G>T g.1873C>A in M11166.1 Rittig et al. (1996), Christensen et al. (2004), Hrčková et al. (2016) AVP_000021 - Mutation found in 5-of-5 affected, 0-of-3 unaffected individuals., 2 more items LOVD
+?/+ 1 2 c.276C>G - r.(?) p.(Cys92Trp) g.3083023G>C g.1873C>G in M11166.1 Brachet et al. (2011) AVP_000063 - Mutation found in 3-of-3 affected, 0-of-2 unaffected individuals. LOVD
+?/+ 1 1 c.55G>A - r.(?) p.(Ala19Thr) g.3084620C>T g.279G>A in M11166.1 Repaske et al. (1990), Repaske et al. (1996) AVP_000006 - 1 more item LOVD
+?/+ 1 2 c.277G>T - r.(?) p.(Gly93Trp) g.3083022C>A g.1874G>T in M11166.1 Nagasaki et al. (1995) AVP_000004 - Not in 200 control chromosomes tested with Bpm I restriction endonuclease analysis. LOVD
+?/+ 1 2 c.164C>T - r.(?) p.(Pro55Leu) g.3083135G>A g.1761C>T in M11166.1 Repaske et al. (1990), Repaske et al. (1996) AVP_000014 - Variant inferred by restriction fragment analysis. Variant found in 1 affected individual. LOVD
+?/+ 3 2 c.286G>T - r.(?) p.(Gly96Cys) g.3083013C>A g.1883G>T in M11166.1 Rittig et al. (1996), Christensen et al. (2004), Kim et al. (2014) AVP_000024 - Mutation found in 1-of-1 affected, 0-of-4 unaffecterd individuals., 2 more items LOVD
+?/+, +/+ 2 2 c.287G>A - r.(?) p.(Gly96Asp) g.3083012C>T g.1884G>A in M11166.1 Christensen et al. (2004), Hedrich et al. (2008) AVP_000031 - 2 more items LOVD
+?/+ 2 2 c.287G>T - r.(?) p.(Gly96Val) g.3083012C>A g.1884G>T in M11166.1 Rauch et al. (1996), Ueta et al. (1996) AVP_000013 - Not in 100 control chromosomes tested with Dde I restriction endonuclease analysis. LOVD
+?/+ 1 2 c.314G>A - r.(?) p.(Cys105Tyr) g.3082985C>T g.1911G>A in M11166.1 Fujii et al. (2000) AVP_000039 - Mutation found in 4-of-4 affected, 0-of-0 unaffected individuals LOVD
+?/+ 1 2 c.289C>T - r.(?) p.(Arg97Cys) g.3083010G>A - Rutishauser et al. (1999) AVP_000047 - - LOVD
+?/+ 1 2 c.292T>A - r.(?) p.(Cys98Ser) g.3083007A>T g.1665T>A in M11166.1 where 1=A in ATG Baglioni et al. (2004) AVP_000089 - Variant found in 1-of-1 affected, 0-of-4 unaffected individuals. LOVD
+/+ 1 2 c.292T>G - r.(?) p.(Cys98Gly) g.3083007A>C - Hedrich et al. (2009) AVP_000036 - Variant found in 3-of-3 affected, 0-1 unaffected individuals. LOVD
+?/+ 2 2 c.293G>C - r.(?) p.(Cys98Ser) g.3083006C>G - Davies et al. (2005) AVP_000008 - - LOVD
+?/+ 2 2 c.294C>A - r.(?) p.(Cys98*) g.3083005G>T g.1891C>A in M11166.1 Nagasaki et al. (1995), Turkkahraman et al. (2015) AVP_000003 - Not in 200 control chromosomes tested with Dde I restriction endonuclease analysis., 1 more item LOVD
+?/+ 1 2 c.298G>C - r.(?) p.(Ala100Pro) g.3083001C>G - Hrčková et al. (2016) AVP_000068 - Mutation found in 3-of-3 affected individuals. LOVD
+?/+ 1 2 c.154T>C - r.(?) p.(Cys52Arg) g.3083145A>G g.1751T>C in M11166.1 Goking et al. (2001): J of Endocrine Genetics 2:105-113 AVP_000040 - Mutation found in 3-of-3 affected, 1-of-3 unaffected individuals LOVD
+?/+ 1 2 c.310T>G - r.(?) p.(Cys104Gly) g.3082989A>C g.1907T>G in M11166.1 Christensen et al. (2004) AVP_000032 - 1 more item LOVD
+?/+ 2 2 c.311G>T Codon 104: TGC>TTC r.(?) p.(Cys104Phe) g.3082988C>A g.1908G>T in M11166.1 Santiprabhob et al. (2002), Duzenli et al. (2012) AVP_000053 - Variant found in proband. LOVD
+?/+ 1 2 c.313T>A - r.(?) p.(Cys105Ser) g.3082986A>T - Chitturi et al. (2008) AVP_000082 - Variant found in 4-of-4 affected, 0-of-1 unaffected individuals. LOVD
+?/+ 1 2 c.313T>C - r.(?) p.(Cys105Arg) g.3082986A>G - Rutishauser et al. (2002) AVP_000048 - - LOVD
+?/+ 2 2 c.322G>T - r.(?) p.(Glu108*) g.3082977C>A - Perrotta et al. (2015), de Fost et al. (2011) AVP_000062 - Variant in mother and son., 1 more item LOVD
+?/+? 1 2i c.322+1del IVS2+1 delG r.spl? p.? g.3082976del g.1920delG Tae et al. (2005) AVP_000035 - Mutation found in 3-of-3 affected individuals. LOVD
+?/+ 1 3 c.329G>A - r.(?) p.(Cys110Tyr) g.3082796C>T - Tian et al. (2016) AVP_000087 - Variant found in proband. LOVD
+?/+ 1 3 c.330C>A - r.(?) p.(Cys110*) g.3082795G>T g.2094C>A in M11166.1 Rittig et al. (1996) AVP_000022 - Mutation found in 5-of-5 affected, 0-of-3 unaffected individuals. LOVD
+?/+ 1 3 c.337G>T - r.(?) p.(Glu113*) g.3082788C>A g.2101G>T in M11166.1 Calvo et al. (1998) AVP_000005 - - LOVD
+?/+ 1 3 c.342_343delinsGT - r.(?) p.(Glu115*) g.3082782_3082783delinsAC g.2106_2107delinsGT in M11166.1 Rittig et al. (1996) AVP_000027 - Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals. LOVD
+?/+ 1 3 c.343G>T - r.(?) p.(Glu115*) g.3082782C>A g.2107G>T in M11166.1 Bullmann et al. (2002) AVP_000079 - Variant found in 3-of-3 affected; not found in 2-of-2 unaffected or in healthy controls. LOVD
+?/+ 1 3 c.346T>G - r.(?) p.(Cys116Gly) g.3082779A>C g.2110T>G in M11166.1 Abbes et al. (2000), van den Akker et al. (2000), Nijenhuis et al. (2001) AVP_000059 - 1 more item LOVD
+?/+ 1 2 c.260C>T - r.(?) p.(Ser87Phe) g.3083039G>A g.1857C>T in M11166.1 Grant et al. (1998) AVP_000041 - Mutation found in 2-of-2 affected, 0-of-0 unaffected individuals LOVD
+?/+ 1 3 c.348C>G - r.(?) p.(Cys116Trp) g.3082777G>C g.2112C>G in M11166.1 Christensen et al. (2004) AVP_000033 - 1 more item LOVD
+?/+ 1 3 c.352G>T - r.(?) p.(Glu118*) g.3082773C>A g.2116G>T in M11166.1 Rittig et al. (1996) AVP_000025 - - LOVD
-/- 1 3 c.475G>A - r.(=) p.(Ala159Thr) g.3082650C>T - Hedrich et al. (2008) AVP_000075 - 1 more item LOVD
+?/+ 1 3 c.493T>G X165G r.(?) p.(*165Glyext*?) g.3082632A>C 2033T>G Couture et al., Paediatr Child Health 10:41B, 2005; Couture et al., Unpublished AVP_000072 - 1 more item Dr. Daniel Bichet
-/- 1 3' UTR c.*110G>A - r.(=) p.(=) g.3082520C>T g.2369G>A in M11166.1 Abbes et al. (2000) AVP_000057 - 1 more item LOVD
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