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Gene entry

TYR

tyrosinase

Chromosome
11
Cytoband
11q14.3
Variants (rsID)
47

TYR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q14.3). Its official name is “tyrosinase”. The reference table lists 47 variants (rsID) for this gene.

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Clinically classified variants

30 reference-table entries with clinical significance.

  • rs1042602Conflicting interpretationssingle nucleotide variantSkin/hair/eye pigmentation, variation in, 3|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism
  • rs104894313Conflicting interpretationssingle nucleotide variantOculocutaneous 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
  • rs1126809Conflicting interpretationssingle nucleotide variantOculocutaneous albinism type 1B|Temperature-sensitive oculocutaneous albinism type 1|Melanoma, cutaneous malignant, susceptibility to, 8|Skin/hair/eye pigmentation, variation in, 3|Skin/hair/eye pigmentation 3, blue/green eyes|Oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|6 conditions|Autosomal recessive ocular albinism|Malignant tumor of breast
  • rs151206295Conflicting interpretationssingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism
  • rs34878847Conflicting interpretationssingle nucleotide variantOculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism
  • rs104894314Pathogenicsingle nucleotide variantOculocutaneous 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
  • rs104894316Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs104894317Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism
  • rs121908011Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Nonsyndromic Oculocutaneous Albinism|Skin/hair/eye pigmentation, variation in, 3|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Inborn genetic diseases
  • rs28940876Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Albinism|Oculocutaneous albinism|Inborn genetic diseases|Oculocutaneous albinism type 1B
  • rs28940880Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs28940881Pathogenicsingle nucleotide variantOculocutaneous albinism type 1B|Tyrosinase-negative oculocutaneous albinism|Hypopigmentation of the skin|Horizontal nystagmus|Hypopigmentation of hair|Iris transillumination defect|Myopia|Albinism|Nystagmus|6 conditions|Ocular albinism with congenital sensorineural hearing loss|Skin/hair/eye pigmentation, variation in, 3|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Abnormality of the skin
  • rs61753178Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61753180Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Skin/hair/eye pigmentation, variation in, 3|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Inborn genetic diseases
  • rs61753185Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B
  • rs61753253Pathogenicsingle nucleotide variant6 conditions
  • rs61754362Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61754365Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism
  • rs61754371Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61754381Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Ocular albinism with congenital sensorineural hearing loss|Skin/hair/eye pigmentation, variation in, 3|Myopia|Nystagmus|Albinism|Oculocutaneous albinism type 1B|Nonsyndromic Oculocutaneous Albinism|Abnormality of the skin|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Ocular albinism
  • rs61754386Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61754387Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61754388Pathogenicsingle nucleotide variantTyrosinase-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
  • rs61754392Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Oculocutaneous albinism type 1
  • rs61754393Pathogenicsingle nucleotide variantTemperature-sensitive oculocutaneous albinism type 1
  • rs62645904Pathogenicsingle nucleotide variantTyrosinase-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
  • rs62645917Pathogenicsingle nucleotide variantTyrosinase-negative oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Abnormality of the skin
  • rs180801021Uncertain significancesingle nucleotide variant
  • rs61754363Uncertain significancesingle nucleotide variantTyrosinase-negative oculocutaneous albinism
  • rs61754380Not classifiedsingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.