rs2125100487

This variant is located in the SETD5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

About SETD5

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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