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Variant (rsID / SNP)

rs61732728

ANO10

rs61732728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO10. Location: chromosome 3, position 43,618,213. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANO10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:43618213
Cytoband
3p22.1
HGVS
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)
Allele change
Missense_R378Q

Associated conditions / phenotypes

Autosomal recessive spinocerebellar ataxia 10

Public references

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