MYH7 c.599C>T ;(p.A200V)

Variant ID: 14-23901010-G-A

NM_000257.2(MYH7):c.599C>T;(p.A200V)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: MYH7: A200V
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: A200V
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.

Biophysical Reviews
Montag, Judith J; Kraft, Theresia T
Publication Date: 2020-08

Variant appearance in text: MYH7: A200V
PubMed Link: 32661905
Variant Present in the following documents:
  • Main text
  • 12551_2020_Article_719.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: MYH7: 599C>T; Ala200Val
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.

Pflugers Archiv : European Journal Of Physiology
Kraft, Theresia T; Montag, Judith J
Publication Date: 2019-05

Variant appearance in text: MYH7: A200V
PubMed Link: 30740621
Variant Present in the following documents:
  • Main text
  • 424_2019_Article_2260.pdf
View BVdb publication page



Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.

International Journal Of Molecular Sciences
Vikhorev, Petr G PG; Vikhoreva, Natalia N NN
Publication Date: 2018-07-31

Variant appearance in text: MYH7: A200V
PubMed Link: 30065175
Variant Present in the following documents:
  • Main text
  • ijms-19-02234.pdf
View BVdb publication page



Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy.

Frontiers In Physiology
Montag, Judith J; Kowalski, Kathrin K; Makul, Mirza M; Ernstberger, Pia P; Radocaj, Ante A; Beck, Julia J; Becker, Edgar E; Tripathi, Snigdha S; Keyser, Britta B; Mühlfeld, Christian C; Wissel, Kirsten K; Pich, Andreas A; van der Velden, Jolanda J; Dos Remedios, Cristobal G CG; Perrot, Andreas A; Francino, Antonio A; Navarro-López, Francesco F; Brenner, Bernhard B; Kraft, Theresia T
Publication Date: 2018

Variant appearance in text: MYH7: 599C>T; A200V
PubMed Link: 29686627
Variant Present in the following documents:
  • Main text
  • fphys-09-00359.pdf
  • Presentation1.pdf
View BVdb publication page



Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Journal Of Muscle Research And Cell Motility
Montag, Judith J; Syring, Mandy M; Rose, Julia J; Weber, Anna-Lena AL; Ernstberger, Pia P; Mayer, Anne-Kathrin AK; Becker, Edgar E; Keyser, Britta B; Dos Remedios, Cristobal C; Perrot, Andreas A; van der Velden, Jolanda J; Francino, Antonio A; Navarro-Lopez, Francesco F; Ho, Carolyn Yung CY; Brenner, Bernhard B; Kraft, Theresia T
Publication Date: 2017-08

Variant appearance in text: MYH7: A200V
PubMed Link: 29101517
Variant Present in the following documents:
  • Main text
  • 10974_2017_Article_9486.pdf
View BVdb publication page