Variant (rsID / SNP)
rs369223258
rs369223258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,753,262. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TWNKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:102753262
- Cytoband
- 10q24.31
- HGVS
- NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions|Mitochondrial DNA depletion syndrome|Ataxia Neuropathy Spectrum Disorders|Autosomal recessive cerebellar ataxia|Infantile onset spinocerebellar 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.