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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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