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TYRP1

Synonyms
CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
0
VUS
1,074
Likely benign
92
Benign
28

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on TYRP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40%
Abnormality of the cardiovascular system
30%
Abnormality of the integument
30%
Abnormality of the nervous system
30%
Abnormality of the digestive system
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of head or neck
10%
Abnormality of limbs
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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