Variant (rsID / SNP)

rs1218762

rs1218762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OR2C1. Location: chromosome 16, position 3,405,986. The table records no clinical significance for this variant.

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Reference-table entries

OR2C1Not classified

Variant type: missense_variant
Chromosome / position: 16:3405986
HGVS: NM_012368.3,c.46G>A,p.Gly16Ser
Allele change: Missense_G16S

Associated conditions / phenotypes

Ataxia and Polyneuropathy, Adult-Onset|Autosomal Recessive Cerebellar Ataxia|Hereditary Ataxia|Spinocerebellar Ataxia, Autosomal Recessive 16|Spinocerebellar Ataxia 15

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.