rs28940876
This is a variant in the TYR gene that changes a proline to an leucine.
▶ClinVar annotation
Albinism; Inborn genetic diseases; Oculocutaneous albinism; Oculocutaneous albinism type 1; Oculocutaneous albinism type 1A (OCA1A); Oculocutaneous albinism type 1B (OCA1B); SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN (SHEP3); TYR-related disorder
View on ClinVar →About TYR
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
View all TYR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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