ABCB4 c.3139G>C ;(p.A1047P)

Variant ID: 7-87037493-C-G

NM_000443.3(ABCB4):c.3139G>C;(p.A1047P)

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:

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

Pediatric Gastroenterology, Hepatology & Nutrition
Zhang, Wen W; Lin, Ruizhu R; Lu, Zhikun Z; Sheng, Huiying H; Xu, Yi Y; Li, Xiuzhen X; Cheng, Jing J; Cai, Yanna Y; Mao, Xiaojian X; Liu, Li L
Publication Date: 2020-11

Variant appearance in text: ABCB4: 3139G>C
PubMed Link: 33215027
Variant Present in the following documents:
  • Main text
  • pghn-23-558.pdf
View BVdb publication page