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GJB1 c.131G>C ;(p.W44S)
Variant ID: X-70443688-G-C
NM_000166.5(
GJB1
):c.131G>C;(p.W44S)
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:
Connexin Mutations and Hereditary Diseases.
International Journal Of Molecular Sciences
Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y
Publication Date: 2022-04-12
Variant appearance in text: GJB1: Trp44Ser
PubMed Link:
35457072
Variant Present in the following documents:
Main text
ijms-23-04255.pdf
View BVdb publication page
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24
Variant appearance in text: GJB1: W44S
PubMed Link:
19230829
Variant Present in the following documents:
Main text
View BVdb publication page