TYRP1 Chromosome 9
Tyrosinase related protein 1
Upload your DNA to see your personal genotypes for variants in TYRP1.
What This Gene Does
This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Tyrosinase family
Locus Type
gene with protein product
Location
9p23
Ensembl
ENSG00000107165
Associated Conditions (11)
Oculocutaneous albinism type 3
MELANESIAN BLOND HAIR
Inborn genetic diseases
Nonsyndromic Oculocutaneous Albinism
TYRP1-related disorder
Ocular albinism
ALBINISM
OCULOCUTANEOUS
TYPE II
MODIFIER OF
Albinism
Key Variants
RS1160525621
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR, Oculocutaneous albinism type 3
Health Risk
RS1172083752
Conflicting classifications of pathogenicity
Health Risk
RS1308562697
Conflicting classifications of pathogenicity
Health Risk
RS1416541339
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144041081
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS145061390
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS147268542
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS148248971
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS148782717
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS150370598
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS1818182191
Conflicting classifications of pathogenicity
Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
Health Risk
RS184910238
Conflicting classifications of pathogenicity
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1400369338 | Health Risk | Pathogenic | — |
| RS140365820 | Health Risk | Pathogenic | Oculocutaneous albinism type 3, Albinism, MELANESIAN BLOND HAIR |
| RS1563851439 | Health Risk | Pathogenic | — |
| RS1563856255 | Health Risk | Pathogenic | — |
| RS1806987019 | Health Risk | Pathogenic | — |
| RS1818034687 | Health Risk | Pathogenic | — |
| RS1818061499 | Health Risk | Pathogenic | — |
| RS1818068588 | Health Risk | Pathogenic | — |
| RS1818111993 | Health Risk | Pathogenic | — |
| RS1818230091 | Health Risk | Pathogenic | — |
| RS1818287916 | Health Risk | Pathogenic | — |
| RS2118223353 | Health Risk | Pathogenic | — |
| RS2537274013 | Health Risk | Pathogenic | — |
| RS2537274064 | Health Risk | Pathogenic | — |
| RS2537274368 | Health Risk | Pathogenic | — |
| RS2537274535 | Health Risk | Pathogenic | — |
| RS2537274612 | Health Risk | Pathogenic | — |
| RS2537276188 | Health Risk | Pathogenic | — |
| RS2537276269 | Health Risk | Pathogenic | — |
| RS2537279998 | Health Risk | Pathogenic | — |
| RS2537280344 | Health Risk | Pathogenic | — |
| RS2537284977 | Health Risk | Pathogenic | — |
| RS2537288712 | Health Risk | Pathogenic | — |
| RS371209698 | Health Risk | Pathogenic | TYRP1-related disorder, Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR |
| RS371562555 | Health Risk | Pathogenic | — |
| RS387906561 | Health Risk | Pathogenic | Oculocutaneous albinism type 3, Oculocutaneous albinism type 3 |
| RS746050665 | Health Risk | Pathogenic | — |
| RS747926709 | Health Risk | Pathogenic | — |
| RS749509242 | Health Risk | Pathogenic | — |
| RS753419037 | Health Risk | Pathogenic | — |
| RS755443485 | Health Risk | Pathogenic | — |
| RS756199090 | Health Risk | Pathogenic | — |
| RS757291528 | Health Risk | Pathogenic | — |
| RS758093517 | Health Risk | Pathogenic | — |
| RS759881199 | Health Risk | Pathogenic | — |
| RS769074792 | Health Risk | Pathogenic | — |
| RS771220162 | Health Risk | Pathogenic | — |
| RS780407909 | Health Risk | Pathogenic | — |
| RS781088855 | Health Risk | Pathogenic | — |
| RS887390037 | Health Risk | Pathogenic | — |
| RS1176553821 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1394455331 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, Oculocutaneous albinism type 3 |
| RS1435975707 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, Oculocutaneous albinism type 3 |
| RS2537276482 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR, Oculocutaneous albinism type 3 |
| RS387906560 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, Albinism, MELANESIAN BLOND HAIR |
| RS387906562 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR, TYRP1-related disorder |
| RS751763527 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS753192557 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS760181936 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR, Oculocutaneous albinism type 3 |
| RS775010915 | Health Risk | Pathogenic/Likely pathogenic | — |