Variant: rs1057517941 

    present in Gene: SPRED1
    present in Chromosome: 15
    Position on Chromosome: 38299386
    Alleles of this Variant: C/T

rs1057517941 in SPRED1 gene and NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME PMID 25074460 2015 Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

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.