MYH7 c.4555A>T ;(p.S1519C)

Variant ID: 14-23886166-T-A

NM_000257.2(MYH7):c.4555A>T;(p.S1519C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06

Variant appearance in text: MYH7: 4555A>T; Ser1519Cys
PubMed Link: 28166811
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_403.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYH7: S1519C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Journal Of Clinical Pathology
Yu, B B; Sawyer, N A NA; Caramins, M M; Yuan, Z G ZG; Saunderson, R B RB; Pamphlett, R R; Richmond, D R DR; Jeremy, R W RW; Trent, R J RJ
Publication Date: 2005-05

Variant appearance in text: MYH7: S1519C
PubMed Link: 15858117
Variant Present in the following documents:
  • Main text
View BVdb publication page