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GJB1 c.30C>T ;(p.L10=)
Variant ID: X-70443587-C-T
NM_000166.5(
GJB1
):c.30C>T;(p.L10=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: GJB1: 30C>T
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015
Variant appearance in text: GJB1: 30C>T; L10L; rs183702021
PubMed Link:
26496393
Variant Present in the following documents:
pone.0140684.s004.xlsx, sheet 5
View BVdb publication page