Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs116046810

TWNK

rs116046810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,750,730. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TWNKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:102750730
Cytoband
10q24.31
HGVS
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
Allele change
Missense_K566R

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

Public references

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