ABCB4 c.2471T>G ;(p.V824G)

Variant ID: 7-87047860-A-C

NM_000443.3(ABCB4):c.2471T>G;(p.V824G)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Jhep Reports : Innovation In Hepatology
Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L
Publication Date: 2022-11

Variant appearance in text: ABCB4: 2471T>G; Val824Gly
PubMed Link: 36277956
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page