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MYH7 c.694A>C ;(p.N232H)
Variant ID: 14-23900832-T-G
NM_000257.2(
MYH7
):c.694A>C;(p.N232H)
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: Asn232His
PubMed Link:
32651905
Variant Present in the following documents:
12551_2020_721_MOESM1_ESM.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: N232H
PubMed Link:
28606303
Variant Present in the following documents:
Main text
elife-24634.pdf
View BVdb publication page