Variant (rsID / SNP)
rs147268542
rs147268542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,698,664. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TYRP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:12698664
- Cytoband
- 9p23
- HGVS
- NM_000550.3(TYRP1):c.913+9C>T
- Allele change
- Silent
Associated conditions / phenotypes
Oculocutaneous albinism type 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.