rs869312707

This is a variant in the MED13L gene that changes a threonine to an methionine.

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ClinVar annotation

Pathogenic★★★☆
4 submitters6 publications

Cardiac anomalies - developmental delay - facial dysmorphism syndrome (MRFACD); Transposition of the great arteries, dextro-looped (DTGA)

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About MED13L

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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