rs371310428
This is a variant in the ELP2 gene that changes a arginine to an glutamine.
▶ClinVar annotation
Pathogenic★★★☆
1 submitter11 publicationsIntellectual disability, autosomal recessive 58 (MRT58); Intellectual disability, profound
View on ClinVar →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]
View all ELP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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