ABCB4 c.2278T>A ;(p.F760I)

Variant ID: 7-87051475-A-T

NM_000443.3(ABCB4):c.2278T>A;(p.F760I)

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:

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes
Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ
Publication Date: 2022-06-11

Variant appearance in text: ABCB4: F760I
PubMed Link: 35741809
Variant Present in the following documents:
  • Main text
  • genes-13-01047.pdf
View BVdb publication page