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CFTR c.1492A>G ;(p.M498V)
Variant ID: 7-117199617-A-G
NM_000492.3(
CFTR
):c.1492A>G;(p.M498V)
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:
MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
Asian Journal Of Andrology
Wan, Yang-Yang YY; Guo, Lan L; Yao, Yao Y; Shi, Xiao-Yun XY; Jiang, Hui H; Xu, Bo B; Hua, Juan J; Zhang, Xian-Sheng XS
Publication Date: 2022
Variant appearance in text: CFTR: 1492A>G
PubMed Link:
34596601
Variant Present in the following documents:
Main text
View BVdb publication page
Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Montiel-Gonzalez, Maria Fernanda MF; Vallecillo-Viejo, Isabel I; Yudowski, Guillermo A GA; Rosenthal, Joshua J C JJ
Publication Date: 2013-11-05
Variant appearance in text: CFTR: M498V
PubMed Link:
24108353
Variant Present in the following documents:
Main text
View BVdb publication page