Variant: rs80338761 

    present in Gene: SEPTIN9
    present in Chromosome: 17
    Position on Chromosome: 77402298
    Alleles of this Variant: C/T

rs80338761 in SEPTIN9 gene and AMYOTROPHY, HEREDITARY NEURALGIC PMID 16186812 2005 Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

PMID 18492087 2008 After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack.

PMID 19451530 2009 Two missense mutations were found: c.262C>T (p.Arg88Trp) in seven HNA pedigrees and c.278C>T (p.Ser93Phe) in one HNA pedigree.

PMID 17546647 2007 Since SEPT9 is thought to function through interaction with other septins and small GTPase Rho-mediated signaling, we analyzed the properties of HNA-associated SEPT9 missense variants, SEPT9F (c.278C>T/p.Ser93Phe in SEPT9_v3; NM_006640.3) and SEPT9W (c.262C>T/p.Arg88Trp in SEPT9_v3).