Variant (rsID / SNP)

rs61757110

rs61757110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPR1. Location: chromosome 3, position 4,735,407. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ITPR1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:4735407
Cytoband: 3p26.1
HGVS: NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)
Allele change: Missense_H1406Q

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.