rs773432002

This is a variant in the ELP2 gene that changes a histidine to an arginine.

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ClinVar annotation

Pathogenic★☆☆☆
5 submitters2 publications

ELP2-related disorder; Inborn genetic diseases; Intellectual disability, autosomal recessive 58 (MRT58)

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About ELP2

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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