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Variant (rsID / SNP)

rs61871507

TWNK

rs61871507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,753,471. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TWNKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:102753471
Cytoband
10q24.31
HGVS
NM_021830.5(TWNK):c.*204G>A
Allele change
Silent

Associated conditions / phenotypes

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Infantile onset spinocerebellar ataxia|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|Autosomal recessive cerebellar ataxia|Hereditary spastic paraplegia

Public references

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