rs137853312
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
FRONTOMETAPHYSEAL DYSPLASIA 1
0.810
GeneticVariation
UNIPROT
In a second family with FMD , we identified a known mutation (S1186L ) in a mother and her son.
16596676
2006
rs137853312
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
FRONTOMETAPHYSEAL DYSPLASIA 1
0.810
GeneticVariation
UNIPROT
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
27193221
2016
rs137853312
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
FRONTOMETAPHYSEAL DYSPLASIA 1
0.810
GeneticVariation
BEFREE
In a second family with FMD , we identified a known mutation (S1186L ) in a mother and her son.
16596676
2006
rs137853312
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
FRONTOMETAPHYSEAL DYSPLASIA 1
0.810
GeneticVariation
UNIPROT
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
12612583
2003
rs137853314
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Oto-Palato-digital syndrome type 1
0.810
GeneticVariation
UNIPROT
We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.
15940695
2005
rs137853314
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Oto-Palato-digital syndrome type 1
0.810
GeneticVariation
UNIPROT
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
12612583
2003
rs137853314
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Oto-Palato-digital syndrome type 1
0.810
GeneticVariation
BEFREE
We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.
15940695
2005
rs137853314
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Oto-Palato-digital syndrome type 1
0.810
GeneticVariation
UNIPROT
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
27193221
2016
rs28935470
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
OTOPALATODIGITAL SYNDROME, TYPE II
0.810
GeneticVariation
UNIPROT
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
27193221
2016
rs28935470
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
OTOPALATODIGITAL SYNDROME, TYPE II
0.810
GeneticVariation
UNIPROT
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
17431908
2007
rs28935470
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
OTOPALATODIGITAL SYNDROME, TYPE II
0.810
GeneticVariation
UNIPROT
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
12612583
2003
rs28935470
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
OTOPALATODIGITAL SYNDROME, TYPE II
0.810
GeneticVariation
BEFREE
Ex vivo characterization of E254K OPD patient fibroblasts revealed they have similar motility and adhesion as control cells, implying that many core functions mediated by FLNA are unaffected, consistent with OPD only affecting specific tissues despite FLNA being widely expressed.
19773341
2009
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
11914408
2002
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
16299064
2006
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
15668422
2005
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
15994863
2006
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
11532987
2001
rs137853311
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
15249610
2004
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
15249610
2004
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
16299064
2006
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
15668422
2005
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
11532987
2001
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
11914408
2002
rs137853313
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
15994863
2006
rs137853315
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
Periventricular Heterotopia, X-Linked
0.800
GeneticVariation
UNIPROT
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
11914408
2002