MYH7 c.597A>C ;(p.A199=)

Variant ID: 14-23901012-T-G

NM_000257.2(MYH7):c.597A>C;(p.A199=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19

Variant appearance in text: MYH7: Ala199Ala
PubMed Link: 22429680
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.

Indian Journal Of Human Genetics
Tanjore, Reena R; Rangaraju, Advithi A; Vadapalli, Shivani S; Remersu, Sushant S; Narsimhan, Calambur C; Nallari, Pratibha P
Publication Date: 2010-05

Variant appearance in text: MYH7: Ala199Ala
PubMed Link: 21031054
Variant Present in the following documents:
  • Main text
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: A199A
PubMed Link: 15858117
Variant Present in the following documents:
  • Main text
View BVdb publication page