Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Gln443ProfsTer5 (p.Q443Pfs*5) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Gln443ProfsTer5 (p.Q443Pfs*5) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg957Ter (p.R957*) ( ENST00000265723.8, ENST00000453593.5, ENST00000359206.8, ENST00000649586.2 )
ABCB4 p.Arg590Gln (p.R590Q) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ala546Asp (p.A546D) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg144Ter (p.R144*) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg957Ter (p.R957*) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg590Gln (p.R590Q) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ala546Asp (p.A546D) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg144Ter (p.R144*) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs