Variant: rs137852515 

    present in Gene: ANOS1
    present in Chromosome: X
    Position on Chromosome: 8536852
    Alleles of this Variant: C/T

rs137852515 in ANOS1 gene and Kallmann Syndrome 1 PMID 19696444 2009 Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.

PMID 15605412 2005 Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

PMID 21168128 2011 A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.

PMID 8504298 1993 Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PMID 15001591 2004 Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

PMID 17054399 2006 Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

PMID 15471890 2004 The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

PMID 17213338 2007 KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

PMID 11297579 2001 The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

PMID 17223984 2007 Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 20530987 2011 Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.

PMID 9589672 1998 A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

PMID 8989261 1997 Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.