Variant: rs397508225 

    present in Gene: CFTR-AS1;CFTR
    present in Chromosome: 7
    Position on Chromosome: 117559609
    Alleles of this Variant: A/G

rs397508225 in CFTR-AS1;CFTR gene and Congenital bilateral aplasia of vas deferens PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 10651488 1998 A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

PMID 7539342 1995 Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).