rs751559486

This variant is located in the NCOR1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About NCOR1

This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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