rs1452725204

This variant is located in the INTS6 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About INTS6

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]

View all INTS6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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