Variant (rsID / SNP)
rs104894276
rs104894276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTS. Location: chromosome 11, position 112,103,901. Clinical significance in the table: Pathogenic.
Reference-table entries
PTSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:112103901
- Cytoband
- 11q23.1
- HGVS
- NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
- Allele change
- Missense_P87A
Associated conditions / phenotypes
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.