Variant (rsID / SNP)
rs104894317
rs104894317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,018,092. Clinical significance in the table: Pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:89018092
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
- Allele change
- Missense_G446S
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.