ABCG8 c.147C>T ;(p.V49=)

Variant ID: 2-44071729-C-T

NM_022437.2(ABCG8):c.147C>T;(p.V49=)

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:

ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

World Journal Of Gastroenterology
Jirsa, Milan M; Bronský, Jiří J; Dvořáková, Lenka L; Šperl, Jan J; Šmajstrla, Vít V; Horák, Jiří J; Nevoral, Jiří J; Hřebíček, Martin M
Publication Date: 2014-05-21

Variant appearance in text: ABCG8: 147C>T
PubMed Link: 24914347
Variant Present in the following documents:
  • Main text
View BVdb publication page