ABCB4 c.2004G>C ;(p.Q668H)

Variant ID: 7-87056126-C-G

NM_000443.3(ABCB4):c.2004G>C;(p.Q668H)

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:

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.

Scientific Reports
Zöllner, Julia J; Finer, Sarah S; Linton, Kenneth J KJ; , ; van Heel, David A DA; Williamson, Catherine C; Dixon, Peter H PH
Publication Date: 2023-05-19

Variant appearance in text: ABCB4: Gln668His
PubMed Link: 37208429
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_33391.pdf
View BVdb publication page