|
rs387906692
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797045905
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80358205
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs786205221
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R299S, which is associated with the most severe phenotype, congenital cataract, and microcornea syndrome, was associated with the most severe overall effect on the transactivation of the four crystallin expression constructs.
|
25064449 |
2014 |
|
rs786205221
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The MAF mutation p.Arg299Ser is the third mutation identified in association with the CCMC phenotype, and all three mutations are located in the basic region of the DNA binding domain in the MAF protein (OMIM 177075).
|
17982426 |
2007 |
|
rs587778872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two mutations (p.Tyr139X and p.Ser166Phe) identified in two unrelated families were associated with their congenital nuclear cataracts and microcornea respectively, which are also reported previously.
|
28298635 |
2017 |
|
rs121917735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).
|
25064449 |
2014 |
|
rs121917736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).
|
25064449 |
2014 |
|
rs397515625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea.
|
23441109 |
2013 |
|
rs142869513
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea.
|
21686328 |
2011 |
|
rs143349894
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea.
|
21686328 |
2011 |