Variant (rsID / SNP)
rs62645904
rs62645904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,924,382. Clinical significance in the table: Pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88924382
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
- Allele change
- Nonsense_R278X
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Ocular albinism with congenital sensorineural hearing loss|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.