Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
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.Pro1168Ser (p.P1168S) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg590Gln (p.R590Q) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg545Cys (p.R545C) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg545Gly (p.R545G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Thr175Ala (p.T175A) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Pro1168Ser (p.P1168S) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg590Gln (p.R590Q) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg545Cys (p.R545C) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg545Gly (p.R545G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Thr175Ala (p.T175A) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- cholecystitis
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs