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Variant (rsID / SNP)

rs80356540

TWNK

rs80356540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,750,231. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TWNKPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:102750231
Cytoband
10q24.31
HGVS
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
Allele change
Missense_Y508C

Associated conditions / phenotypes

Infantile onset spinocerebellar ataxia

Public references

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