Variant (rsID / SNP)

rs144272231

rs144272231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO10. Location: chromosome 3, position 43,618,202. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ANO10Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:43618202
Cytoband: 3p22.1
HGVS: NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter)
Allele change: Missense_E382K

Associated conditions / phenotypes

Autosomal recessive spinocerebellar ataxia 10

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.