Variant (rsID / SNP)
rs104894314
rs104894314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,924,373. 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
- 11:88924373
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.823G>T (p.Val275Phe)
- Allele change
- Missense_V275F
Associated conditions / phenotypes
Oculocutaneous albinism type 1B|Tyrosinase-negative oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 3|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.