MYH7 c.920C>A ;(p.P307H)

Variant ID: 14-23899848-G-T

NM_000257.2(MYH7):c.920C>A;(p.P307H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYH7: 920C>A; Pro307His
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: rs397516273
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYH7: 920C>A; Pro307His
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.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: P307H
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MYH7: P307H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology
Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I
Publication Date: 2014-12-23

Variant appearance in text: MYH7: 920C>A; Pro307His
PubMed Link: 25524337
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page