rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
21936020
2011
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
21936020
2011
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
12789646
2003
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
12668616
2003
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
12789646
2003
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.800
GeneticVariation
UNIPROT
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
12668616
2003
rs869312718
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.800
CausalMutation
CLINVAR
rs869312719
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.800
CausalMutation
CLINVAR
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
0.710
GeneticVariation
BEFREE
In this case, a combination of a known mutation (R271X ) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS .
16702500
2006
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.710
CausalMutation
CLINVAR
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
14962093
2004
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.710
CausalMutation
CLINVAR
Kindler syndrome in native Americans from Panama: report of 26 cases.
15313809
2004
rs121918293
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.710
CausalMutation
CLINVAR
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
12789646
2003
rs142328166
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
T
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs779612399
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs866141540
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312722
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
FERMT1 promoter mutations in patients with Kindler syndrome.
25156791
2015
rs869312724
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
CT
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312725
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
T
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312727
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
G
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs869312730
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
C
0.700
CausalMutation
CLINVAR
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25599393
2015
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
21336475
2011
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
19762715
2009
rs146180696
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
A
0.700
CausalMutation
CLINVAR
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
18528435
2008
rs869312731
×
Entrez Id:
55612
Gene Symbol:
FERMT1
FERMT1
Poikiloderma of Kindler
T
0.700
CausalMutation
CLINVAR
In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X ), or Italian (958-1G > A) origins.
14962093
2004