MYH7 c.1063G>T ;(p.A355S)

Variant ID: 14-23899059-C-A

NM_000257.2(MYH7):c.1063G>T;(p.A355S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation
Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP
Publication Date: 2019-07-16

Variant appearance in text: MYH7: 1063G>T; Ala355Ser
PubMed Link: 31006259
Variant Present in the following documents:
  • cir-140-184-s001.pdf
View BVdb publication page



A study of the pathogenicity of variants in familial heart disease. The value of cosegregation.

American Journal Of Translational Research
García-Molina, Esperanza E; Sabater-Molina, María M; López-Cuenca, David D; Olmo, María C MC; Pérez, Inmaculada I; Muñoz Esparza, Carmen C; Gimeno Blanes, Juan R JR
Publication Date: 2019

Variant appearance in text: MYH7: A355S
PubMed Link: 30972196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: MYH7: A355S
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page