rs3026398

This is a downstream gene variant variant in the ELP4 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

11p partial monosomy syndrome (WAGR); Aniridia 1 (AN1); Aniridia, Cerebellar Ataxia, And Intellectual Disability; Anophthalmia-microphthalmia syndrome; Autosomal dominant keratitis; Foveal hypoplasia 1; carboxymethyl-dextran-A2-gadolinium-DOTA

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About ELP4

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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