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MUC16 c.38825A>G ;(p.Q12942R)
Variant ID: 19-9011408-T-C
NM_024690.2(
MUC16
):c.38825A>G;(p.Q12942R)
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: Gln12942Arg
PubMed Link:
28222800
Variant Present in the following documents:
Main text
13023_2017_Article_575.pdf
View BVdb publication page