Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Tyr132LysfsTer29 (p.Y132Kfs*29) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Tyr132LysfsTer29 (p.Y132Kfs*29) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg957Ter (p.R957*) ( ENST00000265723.8, ENST00000453593.5, ENST00000359206.8, ENST00000649586.2 )
ABCB4 c.2211+1G>A ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Tyr403His (p.Y403H) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg957Ter (p.R957*) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 c.2211+1G>A ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Tyr403His (p.Y403H) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Leu724ArgfsTer21 (p.L724Rfs*21)
ABCB4 p.Leu724ArgfsTer21 (p.L724Rfs*21) - Associated Disease
- Cholestasis, progressive familial intrahepatic 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.560542883744161
- Year of publication
- NA
Drugs