rs28940881

This is a variant in the TYR gene that changes a methionine to an valine.

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ClinVar annotation

Pathogenic★★★☆
16 submitters7 publications

Abnormality of metabolism/homeostasis; Abnormality of the skin; Albinism; Choroidal neovascularization; Elevated circulating hepatic transaminase concentration; Foveal hypoplasia; Horizontal nystagmus; Hypopigmentation of hair; Hypopigmentation of the skin; Iris transillumination defect; Myopia; Nystagmus; Ocular albinism with congenital sensorineural hearing loss; Oculocutaneous albinism; Oculocutaneous albinism type 1A (OCA1A); Oculocutaneous albinism type 1B (OCA1B); SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN (SHEP3); Slow decrease in visual acuity; TYR-related disorder

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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