Variant: rs1555392032 

    present in Gene: SPRED1
    present in Chromosome: 15
    Position on Chromosome: 38339805
    Alleles of this Variant: -/A

rs1555392032 in SPRED1 gene and Dysmorphic features PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

rs1555392032 in SPRED1 gene and Multiple congenital anomalies PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

PMID 21089071 2011 Legius syndrome in fourteen families.

rs1555392032 in SPRED1 gene and Muscle hypotonia PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.