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MYH7 c.741C>G ;(p.F247L)
Variant ID: 14-23900682-G-C
NM_000257.2(
MYH7
):c.741C>G;(p.F247L)
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:
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
Open Heart
de Feria, Alejandro E AE; Kott, Andrew E AE; Becker, Jason R JR
Publication Date: 2021-02
Variant appearance in text: MYH7: F247L
PubMed Link:
33637569
Variant Present in the following documents:
openhrt-2020-001560supp001.pdf
View BVdb publication page
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: F247L
PubMed Link:
28606303
Variant Present in the following documents:
Main text
elife-24634.pdf
View BVdb publication page