ABCB4 c.2124G>A ;(p.W708*)

Variant ID: 7-87053309-C-T

NM_000443.3(ABCB4):c.2124G>A;(p.W708*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.

Bmc Pregnancy And Childbirth
Liu, Xianxian X; Lai, Hua H; Xin, Siming S; Li, Zengming Z; Zeng, Xiaoming X; Nie, Liju L; Liang, Zhengyi Z; Wu, Meiling M; Zheng, Jiusheng J; Zou, Yang Y
Publication Date: 2021-02-05

Variant appearance in text: ABCB4: Trp708Ter
PubMed Link: 33546617
Variant Present in the following documents:
  • Main text
  • 12884_2021_Article_3595.pdf
View BVdb publication page



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: Trp708Ter
PubMed Link: 32942997
Variant Present in the following documents:
  • Main text
  • 12884_2020_Article_3240.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ABCB4: W708*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page