Variant: rs104894314 

    present in Gene: LOC107984363;TYR
    present in Chromosome: 11
    Position on Chromosome: 89191205
    Alleles of this Variant: G/A;T

rs104894314 in LOC107984363;TYR gene and ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

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

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

PMID 1900309 1991 A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

rs104894314 in LOC107984363;TYR gene and Albinism, Oculocutaneous PMID 1903591 1991 In the third patient, type IB OCA results from compound heterozygosity for the same type IB allele (codon 275 Val----Phe) and a novel type IB OCA allele.

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

rs104894314 in LOC107984363;TYR gene and Oculocutaneous albinism type 1A PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

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

PMID 24934919 2014 Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.

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

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