Variant (rsID / SNP)
rs61754386
rs61754386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,961,065. 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
- 11:88961065
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)
- Allele change
- Missense_N371Y
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.