ABCB4 c.431G>A ;(p.R144Q)

Variant ID: 7-87082365-C-T

NM_000443.3(ABCB4):c.431G>A;(p.R144Q)

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:

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

Bmc Gastroenterology
Sharma, Anjali A; Poddar, Ujjal U; Agnihotry, Shikha S; Phadke, Shubha R SR; Yachha, Surender K SK; Aggarwal, Rakesh R
Publication Date: 2018-07-04

Variant appearance in text: ABCB4: Arg144Gln; rs863225299
PubMed Link: 29973134
Variant Present in the following documents:
  • Main text
  • 12876_2018_Article_835.pdf
View BVdb publication page