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Variant (rsID / SNP)

rs41289628

ITPR1

rs41289628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPR1. Location: chromosome 3, position 4,704,816. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ITPR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:4704816
Cytoband
3p26.1
HGVS
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
Allele change
Missense_V479I

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia

Public references

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