Variant (rsID / SNP)

rs41315884

rs41315884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPR1. Location: chromosome 3, position 4,888,686. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ITPR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:4888686
Cytoband: 3p26.1
HGVS: NM_001378452.1(ITPR1):c.*777C>T
Allele change: Silent

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.