MYH7 c.812C>T ;(p.S271F)

Variant ID: 14-23900193-G-A

NM_000257.2(MYH7):c.812C>T;(p.S271F)

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:

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences
Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N
Publication Date: 2021-10-15

Variant appearance in text: MYH7: S271F
PubMed Link: 34681814
Variant Present in the following documents:
  • Main text
View BVdb publication page


Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Frontiers In Physiology
Despond, Evan A EA; Dawson, John F JF
Publication Date: 2018

Variant appearance in text: MYH7: S271F
PubMed Link: 29719515
Variant Present in the following documents:
  • Main text
  • fphys-09-00405.pdf
View BVdb publication page