MYH7 c.2633T>G ;(p.V878G)

Variant ID: 14-23894024-A-C

NM_000257.2(MYH7):c.2633T>G;(p.V878G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Bmc Medical Genetics
Teirlinck, Carolien H CH; Senni, Faïza F; Malti, Rajae El RE; Majoor-Krakauer, Danielle D; Fellmann, Florence F; Millat, Gilles G; André-Fouët, Xavier X; Pernot, François F; Stumpf, Michaël M; Boutarin, Jean J; Bouvagnet, Patrice P
Publication Date: 2012-11-10

Variant appearance in text: MYH7: Val878Gly
PubMed Link: 23140321
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-105.pdf
View BVdb publication page