|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.
|
27829221 |
2016 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
|
25919014 |
2015 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
|
23324268 |
2013 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
|
22042571 |
2012 |
|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.
|
22734612 |
2012 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.
|
22734612 |
2012 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
|
20806075 |
2010 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
|
16056219 |
2005 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
|
15635296 |
2004 |
|
rs62645904
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
|
15635296 |
2004 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
|
7902671 |
1993 |
|
rs28940876
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
|
18821858 |
2008 |
|
rs28940876
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
|
18326704 |
2008 |
|
rs28940876
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
|
15146472 |
2004 |
|
rs28940876
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
|
13680365 |
2003 |
|
rs28940876
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
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.
|
1970634 |
1990 |
|
rs28940876
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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.
|
1970634 |
1990 |
|
rs104894313
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
|
27775880 |
2017 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
|
28266639 |
2017 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Delineating the genetic heterogeneity of OCA in Hungarian patients.
|
28629449 |
2017 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
|
28451379 |
2017 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
|
26818737 |
2016 |
|
rs104894313
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
|
26167114 |
2015 |