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GJB1 c.3G>A ;(p.M1?)
Variant ID: X-70443560-G-A
NM_000166.5(
GJB1
):c.3G>A;(p.M1?)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis.
Brain Sciences
Boso, Federica F; Taioli, Federica F; Cabrini, Ilaria I; Cavallaro, Tiziana T; Fabrizi, Gian Maria GM
Publication Date: 2020-12-27
Variant appearance in text: GJB1: Met1Ile
PubMed Link:
33375465
Variant Present in the following documents:
Main text
View BVdb publication page
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23
Variant appearance in text: GJB1: M1I
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Annals Of Clinical And Translational Neurology
Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC
Publication Date: 2019-06
Variant appearance in text: GJB1: M1I
PubMed Link:
31211173
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: GJB1: M1I
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page