rs1581323265

This variant is located in the MEF2C gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

About MEF2C

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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