|
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 |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
|
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
|
|
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
|
|
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 |
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
|
20806075 |
2010 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
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 |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
|
7902671 |
1993 |
|
rs62645904
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
|
23324268 |
2013 |
|
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 |
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
|
|
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 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.
|
11284711 |
2001 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
|
25216246 |
2014 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
|
22734612 |
2012 |
|
rs104894313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406.
|
1903591 |
1991 |
|
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 |
CausalMutation |
CLINVAR |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
|
18463683 |
2008 |
|
rs104894314
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
|
13680365 |
2003 |
|
rs104894314
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
|
18463683 |
2008 |
|
rs104894314
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
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.
|
1903591 |
1991 |