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MYH7 c.641G>A ;(p.G214D)
Variant ID: 14-23900885-C-T
NM_000257.2(
MYH7
):c.641G>A;(p.G214D)
This variant was identified in 3 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: Gly214Asp
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: G214D
PubMed Link:
28606303
Variant Present in the following documents:
Main text
elife-24634.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: 641G>A; Gly214Asp
PubMed Link:
18258667
Variant Present in the following documents:
Main text
View BVdb publication page