rs4251755

This variant is located in the TAF15 gene.

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ClinVar annotation

Likely Benign★★★☆

5 submitters2 publications

not provided; TAF15-related disorder; not specified

About TAF15

This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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