MYH7 c.5410G>A ;(p.A1804T)

Variant ID: 14-23884353-C-T

NM_000257.2(MYH7):c.5410G>A;(p.A1804T)

This variant was identified in 4 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: A1804T; rs730880818
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Ala1804Thr
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYH7: 5410G>A; A1804T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One
Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S
Publication Date: 2017

Variant appearance in text: MYH7: 5410G>A; A1804T; rs730880818
PubMed Link: 28750076
Variant Present in the following documents:
  • Main text
  • pone.0181842.pdf
View BVdb publication page