AMACR c.888G>A ;(p.P296=)

Variant ID: 5-33989459-C-T

NM_014324.5(AMACR):c.888G>A;(p.P296=)

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:

Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?

Frontiers In Medicine
Bing, Hao H; Li, Yi-Ling YL; Li, Dan D; Zhang, Chen C; Chang, Bing B
Publication Date: 2022

Variant appearance in text: AMACR: 888G>A
PubMed Link: 35783636
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page