rs121434318
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.800
GeneticVariation
UNIPROT
Legius syndrome in fourteen families.
21089071
2011
rs121434318
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.800
GeneticVariation
UNIPROT
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
20108422
2010
rs121434318
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.800
GeneticVariation
UNIPROT
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
19443465
2009
rs121434318
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.800
GeneticVariation
UNIPROT
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
17704776
2007
rs121434318
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
A
0.800
CausalMutation
CLINVAR
rs1057517941
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.710
GeneticVariation
BEFREE
In one case we identified a nonsense mutation c.46C>T (p.Arg16* ) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome .This mutation was reported previously.
28150585
2017
rs1057517941
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
25074460
2015
rs121434312
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
0.710
GeneticVariation
BEFREE
Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome .
25981987
2015
rs121434312
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome .
25981987
2015
rs121434312
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs121434312
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
Identification of five novel SPRED1 germline mutations in Legius syndrome.
21649642
2011
rs1057517941
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
19366998
2009
rs1057517941
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
19443465
2009
rs121434312
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.710
CausalMutation
CLINVAR
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
17704776
2007
rs7175472
SPRED1;LOC107984760
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs7175472
SPRED1;LOC107984760
Adolescent idiopathic scoliosis
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
24334617
2013
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Multiple congenital anomalies
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392032
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
Dysmorphic features
CA
0.700
CausalMutation
CLINVAR
Review and update of SPRED1 mutations causing Legius syndrome.
22753041
2012
rs1555392609
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
22751498
2012
rs121434313
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
rs121434315
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
T
0.700
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011