|| unaffected carrier of an allele associated with vas deferens condition?
|| common in clinvar
[PMID 18716917] A novel computational and structural analysis of nsSNPs in CFTR gene.
[PMID 108758] Psychologic vulnerability in epileptic patients.
[PMID 1379210] Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
[PMID 10653141] Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.
[PMID 12127423] Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.
[PMID 15705292] Molecular pathology of the CFTR locus in male infertility.
[PMID 15880796] Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
|| High clinical importance, Likely pathogenic
|| Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.