ABCB4 c.803C>T ;(p.A268V)

Variant ID: 7-87079314-G-A

NM_000443.3(ABCB4):c.803C>T;(p.A268V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy.

Bmc Pregnancy And Childbirth
Liu, Xianxian X; Lai, Hua H; Zeng, Xiaoming X; Xin, Siming S; Nie, Liju L; Liang, Zhenyi Z; Wu, Meiling M; Chen, Yu Y; Zheng, Jiusheng J; Zou, Yang Y
Publication Date: 2020-09-17

Variant appearance in text: ABCB4: Ala268Val; rs201502889
PubMed Link: 32942997
Variant Present in the following documents:
  • Main text
  • 12884_2020_Article_3240.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: ABCB4: A268V
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page