rs121907917
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A human aniridia pedigree with a PAX6 R240Stop mutation was examined for abnormal glucose metabolism using an OGTT.
|
19034419 |
2009 |
rs121907917
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) mutation in PAX6, suggesting the c.608G>A variation in SIX6 was unlikely to play a role in her ocular phenotype.
|
20057906 |
2009 |
rs121907917
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) mutation in PAX6, suggesting the c.608G>A variation in SIX6 was unlikely to play a role in her ocular phenotype.
|
20057906 |
2009 |
rs121907916
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia.
|
27463523 |
2016 |
rs121907916
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia.
|
27463523 |
2016 |
rs121907914
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background.
|
22393272 |
2012 |
rs1131692289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia.
|
30315214 |
2019 |
rs759557055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia.
|
30986449 |
2019 |
rs763807196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia.
|
30315214 |
2019 |
rs1131692297
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background.
|
22393272 |
2012 |