Variant: rs121908752 

    present in Gene: CFTR
    present in Chromosome: 7
    Position on Chromosome: 117535285
    Alleles of this Variant: T/G

rs121908752 in CFTR gene and Congenital bilateral aplasia of vas deferens PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

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

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

rs121908752 in CFTR gene and Cystic Fibrosis PMID 1284529 1992 Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

PMID 8829633 1996 Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

PMID 8956039 1996 Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.

PMID 9452054 1998 Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

PMID 8522333 1995 Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

PMID 9554753 1998 Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.

PMID 12529365 2003 A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.

PMID 15528182 2005 Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

PMID 8406518 1993 Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

PMID 23951356 2013 A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 8723693 1996 A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.

PMID 23974870 2013 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

PMID 9452073 1998 A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.

PMID 20021716 2009 Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

PMID 12167682 2002 Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

PMID 7524909 1994 A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

PMID 1710600 1991 Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

PMID 1695717 1990 A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

PMID 22658665 2012 Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

PMID 7543567 1995 A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

PMID 21520337 2011 Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

PMID 20008117 2010 Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

PMID 20150177 2010 Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.

PMID 16822950 2007 Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.

PMID 23751316 2013 Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.

PMID 7691344 1993 Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 7683628 1993 Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

PMID 23891399 2014 Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

PMID 15776432 2005 Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.