Variant: rs28940876 

    present in Gene: TYR;LOC107984363
    present in Chromosome: 11
    Position on Chromosome: 89178195
    Alleles of this Variant: C/T

rs28940876 in TYR;LOC107984363 gene and Albinism PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

rs28940876 in TYR;LOC107984363 gene and Albinism, Oculocutaneous PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

PMID 18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

PMID 1970634 1990 This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals.

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 15146472 2004 Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

rs28940876 in TYR;LOC107984363 gene and Oculocutaneous albinism type 1A PMID 24934919 2014 Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

PMID 15146472 2004 Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

PMID 1943686 1991 Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

PMID 7902671 1993 Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

PMID 7955413 1994 Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 1642278 1992 Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

PMID 11858948 2002 A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

PMID 1487241 1992 Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

PMID 8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.

PMID 11295837 2001 Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

PMID 22981120 2012 A population-based study of autosomal-recessive disease-causing mutations in a founder population.

PMID 2342539 1990 Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

PMID 10571953 1999 Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

PMID 1899321 1991 Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

PMID 9259202 1997 Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

PMID 10671066 1998 Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.