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MYH7

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A heterozygous change in the MYH7 gene was identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.

Date of Report

Jun 05, 2023

Full Name

Myosin Heavy Chain 7

Location
Chromosome 14 (14q11.2)
Location Image

Function

The MYH7 gene enables formation of bipolar thick filaments that are a component of units for skeletal and cardiac muscle (Keenan et al., 2015).

Database Links

GeneCards: MYH7

MedlinePlus Genetics: MYH7

NCBI Gene: 4625

OMIM: 160760

UniProtKB/Swiss-Prot: P12883

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
MYH7 Autosomal dominant/autosomal recessive chr14:g.23884467C>A NM_000257.4 c.5296G>T p.Ala1766Ser
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