Transcript #00003184

Transcript name arginine vasopressin
Gene name AVP (arginine vasopressin)
Chromosome 20
Transcript - NCBI ID NM_000490.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000481.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-38A>T likely benign r.(?) p.(=)
+?/. - c.1A>G likely pathogenic r.(?) p.?
+?/. - c.55G>A likely pathogenic r.(?) p.(Ala19Thr)
+/. - c.55G>A pathogenic r.(?) p.(Ala19Thr)
+/. - c.56C>T pathogenic r.(?) p.(Ala19Val)
+?/. - c.61T>C likely pathogenic r.(?) p.(Tyr21His)
+?/. - c.143G>T likely pathogenic r.(?) p.(Gly48Val)
?/. - c.148G>A VUS r.(?) p.(Gly50Ser)
+/. - c.156C>G pathogenic r.(?) p.(Cys52Trp)
?/. - c.158T>G VUS r.(?) p.(Phe53Cys)
+/. - c.164C>T pathogenic r.(?) p.(Pro55Leu)
+/. - c.232G>A pathogenic r.(?) p.(Glu78Lys)
+/. - c.232_234del pathogenic r.(?) p.(Glu78del)
+?/. - c.260C>A likely pathogenic r.(?) p.(Ser87Tyr)
+/. - c.260C>A pathogenic r.(?) p.(Ser87Tyr)
+/. - c.274T>C pathogenic r.(?) p.(Cys92Arg)
+?/. - c.275G>A likely pathogenic r.(?) p.(Cys92Tyr)
+/. - c.276C>A pathogenic r.(?) p.(Cys92*)
+/. - c.322G>T pathogenic r.(?) p.(Glu108*)
?/. - c.324G>C VUS r.(?) p.(Glu108Asp)
+/. - c.346T>C pathogenic r.(?) p.(Cys116Arg)
+/. - c.346T>G pathogenic r.(?) p.(Cys116Gly)
?/. - c.365G>A VUS r.(?) p.(Arg122His)
?/. - c.382G>A VUS r.(?) p.(Asp128Asn)
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