Variant (rsID / SNP)
rs121917851
rs121917851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTPA. Location: chromosome 8, position 63,978,615. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TTPAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:63978615
- Cytoband
- 8q12.3
- HGVS
- NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
- Allele change
- Nonsense_R134X
Associated conditions / phenotypes
Ataxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.