ABCB4 c.984T>A ;(p.Y328*)

Variant ID: 7-87076371-A-T

NM_000443.3(ABCB4):c.984T>A;(p.Y328*)

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:

Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.

Pediatric Gastroenterology, Hepatology & Nutrition
Boga, Salih S; Jain, Dhanpat D; Schilsky, Michael L ML
Publication Date: 2015-09

Variant appearance in text: ABCB4: Y328*
PubMed Link: 26473142
Variant Present in the following documents:
  • pghn-18-202.pdf
View BVdb publication page