MYH7 c.646C>G ;(p.L216V)

Variant ID: 14-23900880-G-C

NM_000257.2(MYH7):c.646C>G;(p.L216V)

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:

Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Leu216Val
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page


Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

Clinical Chemistry
Waldmüller, Stephan S; Müller, Melanie M; Rackebrandt, Kirsten K; Binner, Priska P; Poths, Sven S; Bonin, Michael M; Scheffold, Thomas T
Publication Date: 2008-04

Variant appearance in text: MYH7: 646C>G; Leu216Val
PubMed Link: 18258667
Variant Present in the following documents:
  • Main text
View BVdb publication page