rs121434318
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs121434318
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
|
20108422 |
2010 |
rs121434318
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
|
19443465 |
2009 |
rs121434318
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
|
17704776 |
2007 |
rs121434318
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517941
|
|
|
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
|
|
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
|
|
|
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
|
|
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
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs121434312
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Identification of five novel SPRED1 germline mutations in Legius syndrome.
|
21649642 |
2011 |
rs1057517941
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
|
19366998 |
2009 |
rs1057517941
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
|
19443465 |
2009 |
rs121434312
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
|
17704776 |
2007 |
rs1555392609
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
|
22751498 |
2012 |
rs121434313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs121434315
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555391053
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1566876954
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs750777752
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs878855228
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs750777752
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPRED 1 mutations in a neurofibromatosis clinic.
|
20179001 |
2010 |
rs121434313
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs121434315
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
|
19366998 |
2009 |
rs121434316
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
|
19366998 |
2009 |