Variant (rsID / SNP)
rs61754388
rs61754388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,961,072. Clinical significance in the table: Pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88961072
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
- Allele change
- Missense_T373K
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Skin/hair/eye pigmentation, variation in, 3|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.