Variant (rsID / SNP)
rs104894313
rs104894313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,017,973. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:89017973
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
- Allele change
- Missense_P406L
Associated conditions / phenotypes
Oculocutaneous albinism type 1B|Oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|Inborn genetic diseases|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Skin/hair/eye pigmentation, variation in, 3|Hearing impairment|Abnormality of the skin
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.