Variant (rsID / SNP)
rs104894316
rs104894316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,017,965. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:89017965
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
- Allele change
- Missense_R403S
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.