Hypertrophic cardiomyopathy
OMIM:192600Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the circulatory system
Mutations
| Gene Symbol | MYH7b |
|---|---|
| Reference transcript | NM_000257.2 |
| DNA Change | c.2572C>T |
| A.A. Change | p.Arg858Cys |
| Exon/Intron | exon 21 |
| Mutation Type | substitution |
| Reference | Mora R, Merino JL, Peinado R, Olias F, Garcia-Guereta L, del Cerro MJ, Tarin MN, Molano J.[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. Rev Esp Cardiol. 2006 Aug;59(8):846-9. |
| Gene Symbol | MYH7b |
|---|---|
| Reference transcript | NM_000257.2 |
| DNA Change | c.1543A>G |
| A.A. Change | p.Met515Val |
| Exon/Intron | exon 14 |
| Mutation Type | substitution |
| Reference | Mora R, Merino JL, Peinado R, Olias F, Garcia-Guereta L, del Cerro MJ, Tarin MN, Molano J.[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. Rev Esp Cardiol. 2006 Aug;59(8):846-9. |