MUC16 c.2261C>G ;(p.T754R)

Variant ID: 19-9089554-G-C

NM_024690.2(MUC16):c.2261C>G;(p.T754R)

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:

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Orphanet Journal Of Rare Diseases
Chow, Yock-Ping YP; Abdul Murad, Nor Azian NA; Mohd Rani, Zamzureena Z; Khoo, Jia-Shiun JS; Chong, Pei-Sin PS; Wu, Loo-Ling LL; Jamal, Rahman R
Publication Date: 2017-02-21

Variant appearance in text: MUC16: 2261C>G
PubMed Link: 28222800
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_575.pdf
View BVdb publication page