rs1038639
This variant is located in the ITPR1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout ITPR1
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
View all ITPR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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