MYH7 c.2273T>G ;(p.F758C)

Variant ID: 14-23894917-A-C

NM_000257.2(MYH7):c.2273T>G;(p.F758C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: F758C
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page