Variant: rs104894313 

    present in Gene: TYR;LOC107984363
    present in Chromosome: 11
    Position on Chromosome: 89284805
    Alleles of this Variant: C/T

rs104894313 in TYR;LOC107984363 gene and ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."

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.

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

rs104894313 in TYR;LOC107984363 gene and Albinism, Oculocutaneous PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 9242509 1997 Mutational analysis of copper binding by human tyrosinase.

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

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 22734612 2012 Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

PMID 1903591 1991 In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406.

PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

PMID 11284711 2001 The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

PMID 24123366 2014 Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

PMID 26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

PMID 25216246 2014 Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

PMID 21906913 2011 Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

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

PMID 19320745 2009 Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

PMID 27775880 2017 Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

rs104894313 in TYR;LOC107984363 gene and Oculocutaneous albinism type 1A PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

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

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

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

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

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 8644824 1996 Diagnosis of oculocutaneous albinism with molecular analysis.

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

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

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

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

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

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

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

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

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

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