rs1555240359
This variant is located in the MED13L gene.
▶ClinVar annotation
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]
View all MED13L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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