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MYH7 c.1177G>A ;(p.A393T)
Variant ID: 14-23898518-C-T
NM_000257.2(
MYH7
):c.1177G>A;(p.A393T)
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:
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015
Variant appearance in text: MYH7: 1177G>A
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page
Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.
Trends In Cardiovascular Medicine
Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R
Publication Date: 2008-05
Variant appearance in text: MYH7: A393T
PubMed Link:
18555187
Variant Present in the following documents:
Main text
View BVdb publication page