ABCB4 c.3770del ;(p.Q1257Rfs*45)

Variant ID: 7-87031482-CT-C

NM_000443.3(ABCB4):c.3770del;(p.Q1257Rfs*45)

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:

Analysis of gene mutations in children with cholestasis of undefined etiology.

Journal Of Pediatric Gastroenterology And Nutrition
Matte, Ursula U; Mourya, Reena R; Miethke, Alexander A; Liu, Cong C; Kauffmann, Gregory G; Moyer, Katie K; Zhang, Kejian K; Bezerra, Jorge A JA
Publication Date: 2010-10

Variant appearance in text: ABCB4: 3770delA
PubMed Link: 20683201
Variant Present in the following documents:
  • Main text
View BVdb publication page