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Variant (rsID / SNP)

rs17113613

TWNK

rs17113613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,749,069. Clinical significance in the table: Benign.

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Reference-table entries

TWNKBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
10:102749069
Cytoband
10q24.31
HGVS
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
Allele change
Missense_V368I

Associated conditions / phenotypes

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

Public references

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