ABCB4 c.702G>T ;(p.W234C)

Variant ID: 7-87080945-C-A

NM_000443.3(ABCB4):c.702G>T;(p.W234C)

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:

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: ABCB4: 702G>T; Trp234Cys
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page