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MUC16 c.1194C>A ;(p.G398=)
Variant ID: 19-9090621-G-T
NM_024690.2(
MUC16
):c.1194C>A;(p.G398=)
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:
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021
Variant appearance in text: MUC16: 1194C>A
PubMed Link:
34692690
Variant Present in the following documents:
Table_2.xlsx, sheet 3
View BVdb publication page