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.




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