Variant: rs1279529138 

    present in Gene: NF1
    present in Chromosome: 17
    Position on Chromosome: 31260516
    Alleles of this Variant: G/A;T

rs1279529138 in NF1 gene and Mid aortic syndrome PMID 29483232 2018 Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

rs1279529138 in NF1 gene and Neurofibromatosis 1 PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

PMID 23913538 2013 NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.