ABCB4 c.526_527delinsTA ;(p.R176*)

Variant ID: 7-87082269-CG-TA

NM_000443.3(ABCB4):c.526_527delinsTA;(p.R176*)

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:

Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients.

Bmc Medical Genomics
Lai, Hua H; Liu, Xianxian X; Xin, Siming S; Zheng, Jiusheng J; Liu, Huai H; Ouyang, Yu Y; Yang, Huoxiu H; Zeng, Yang Y; Zou, Yang Y; Zeng, Xiaoming X
Publication Date: 2022-04-18

Variant appearance in text: ABCB4: R176*
PubMed Link: 35436901
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1240.pdf
View BVdb publication page