Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MYH7b

Gene name: myosin, heavy chain 7, cardiac muscle, beta
OMIM ID: 160760
Chromosome location: 14q11.2

Mutations

Disease/PhenotypeHypertrophic cardiomyopathy
Reference transcriptNM_000257.2
DNA Changec.1543A>G
A.A. Changep.Met515Val
Exon/Intronexon 14
Mutation Typesubstitution
ReferenceMora 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.

Disease/PhenotypeHypertrophic cardiomyopathy
Reference transcriptNM_000257.2
DNA Changec.2572C>T
A.A. Changep.Arg858Cys
Exon/Intronexon 21
Mutation Typesubstitution
ReferenceMora 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.