|
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 |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
|
19060277 |
2009 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
|
18463683 |
2008 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
|
22294196 |
2012 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Delineating the genetic heterogeneity of OCA in Hungarian patients.
|
28629449 |
2017 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
|
20861488 |
2011 |
|
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 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
|
15381243 |
2004 |
|
rs61754381
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
|
9163730 |
1997 |
|
rs111277962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles.
|
26165494 |
2015 |
|
rs1195488663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.
|
26165494 |
2015 |
|
rs1209759817
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles.
|
26165494 |
2015 |
|
rs121907990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
|
rs121918167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients.
|
10649493 |
2000 |
|
rs1235133629
|
|
|
0.010 |
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 |
|
rs1284013503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed the targeted next-generation sequencing (NGS) on the proband and identified two novel compound heterozygous variants (c.1865 T > C (p.Leu622Pro) and exons 17-21 deletion) in OCA2 gene associated with OCA type 2 (OCA2, OMIM 203200).
|
31345173 |
2019 |
|
rs1419039731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.
|
26165494 |
2015 |
|
rs143218168
|
|
|
0.010 |
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 |
|
rs1444104997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a "protective" haplotype with respect to MPM, including MGMT p.I174V alteration.
|
27776349 |
2017 |
|
rs148066812
|
|
|
0.010 |
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 |
|
rs16891982
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations.
|
25760657 |
2015 |
|
rs1800414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A non-synonymous variant, H615R in the oculocutaneous albinism 2 gene (OCA2), was associated with the risk of malignant melanoma in the Yamagata group (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.17-0.86; P = 0.020).
|
24617981 |
2014 |
|
rs201590781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.
|
26165494 |
2015 |
|
rs201728087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles.
|
26165494 |
2015 |