All transcript variants in gene AVP

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-38A>T likely benign r.(?) p.(=) g.3065358T>A - - - AVP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1A>G likely pathogenic r.(?) p.? g.3065320T>C - - - AVP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.55G>A likely pathogenic r.(?) p.(Ala19Thr) g.3065266C>T - AVP(NM_000490.4):c.55G>A (p.A19T) - AVP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.55G>A pathogenic r.(?) p.(Ala19Thr) g.3065266C>T - AVP(NM_000490.4):c.55G>A (p.A19T) - AVP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.56C>T pathogenic r.(?) p.(Ala19Val) g.3065265G>A - - - AVP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.61T>C likely pathogenic r.(?) p.(Tyr21His) g.3065260A>G - - - AVP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.143G>T likely pathogenic r.(?) p.(Gly48Val) g.3063802C>A - - - AVP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.148G>A VUS r.(?) p.(Gly50Ser) g.3063797C>T - - - AVP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.156C>G pathogenic r.(?) p.(Cys52Trp) g.3063789G>C - - - AVP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.158T>G VUS r.(?) p.(Phe53Cys) g.3063787A>C - - - AVP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.164C>T pathogenic r.(?) p.(Pro55Leu) g.3063781G>A - - - AVP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.232G>A pathogenic r.(?) p.(Glu78Lys) g.3063713C>T - - - AVP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.232_234del pathogenic r.(?) p.(Glu78del) g.3063716_3063718del - - - AVP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.260C>A pathogenic r.(?) p.(Ser87Tyr) g.3063685G>T - AVP(NM_000490.4):c.260C>A (p.S87Y) - AVP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.260C>A likely pathogenic r.(?) p.(Ser87Tyr) g.3063685G>T - AVP(NM_000490.4):c.260C>A (p.S87Y) - AVP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.274T>C pathogenic r.(?) p.(Cys92Arg) g.3063671A>G - - - AVP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.275G>A likely pathogenic r.(?) p.(Cys92Tyr) g.3063670C>T - - - AVP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.276C>A pathogenic r.(?) p.(Cys92*) g.3063669G>T - - - AVP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.322G>T pathogenic r.(?) p.(Glu108*) g.3063623C>A - - - AVP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.324G>C VUS r.(?) p.(Glu108Asp) g.3063447C>G - - - AVP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.346T>C pathogenic r.(?) p.(Cys116Arg) g.3063425A>G - - - AVP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.346T>G pathogenic r.(?) p.(Cys116Gly) g.3063425A>C - AVP(NM_000490.4):c.346T>G (p.C116G) - AVP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.365G>A VUS r.(?) p.(Arg122His) g.3063406C>T - - - AVP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.382G>A VUS r.(?) p.(Asp128Asn) g.3063389C>T - - - AVP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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