rs863225452
|
|
TGGCGATGAGCGCCAC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs797044532
|
|
TGGGGGTGCGGCGGAGGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044532
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044531
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044530
|
|
TGCGGCGGAGGCGGGGGTGCGGCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044529
|
|
AGGCGGGGGTGCGGCCGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044528
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044528
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044527
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs797044527
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs797044527
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs764243782
|
|
AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs759236439
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs672601359
|
|
GGAGGCGGGGGTGCGGCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs672601358
|
|
GGCTGGGCTGGCAGGGCTGA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs672601357
|
|
AGCGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs529612732
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients.
|
22926839 |
2012 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
|
12630957 |
2003 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
|
12400065 |
2002 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
|
11468277 |
2001 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
|
11175783 |
2001 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
|
18372316 |
2008 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
|
15257268 |
2004 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
|
16454982 |
2006 |
rs387906920
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
|
12529855 |
2003 |