rs137939966

This is a variant in the MYOCD gene that changes a isoleucine to an valine.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters1 publication

Intellectual disability; Seizure; not specified

About MYOCD

This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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