MYH7b

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

Mutations

Disease/Phenotype	Hypertrophic cardiomyopathy
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.

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Disease/Phenotype	Hypertrophic cardiomyopathy
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.

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