MUC12 c.3494G>A ;(p.R1165Q)

Variant ID: 7-100637338-G-A

NM_001164462.1(MUC12):c.3494G>A;(p.R1165Q)

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 mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: MUC12: 3494G>A; Arg1165Gln; rs76001002
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 4
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page