{{Rsnum
|rsid=113857788
|Gene=CFTR
|Chromosome=7
|position=117664780
|Orientation=plus
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CFTR
}}{{omim
|id=602421
|rsnum=113857788
|variant=0133
}}{{ClinVar
|rsid=113857788
|Reversed=0
|FwdREF=G
|FwdALT=C,T
|REF=G
|ALT=C,T
|RSPOS=117304834
|CHROM=7
|GMAF=0.0037
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000040416110100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000007.13:g.117304834G>C; NC_000007.13:g.117304834G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602421.0133
|CLNSIG=5
|CLNCUI=C0010674
|CLNDBN=Cystic fibrosis; Congenital bilateral absence of the vas deferens
|Disease=Cystic fibrosis; Congenital bilateral absence of the vas deferens
|CLNACC=RCV000007659.2; RCV000029537.1
|Tags=PM;PMC;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673; .
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008; NBK1250:CN032726:277180:48
|COMMON=1
}}{{PMID Auto
|PMID=12952
|Title=Studies on 3-deoxy-D-arabinoheptulosonate-7-phosphate synthetase(phe)from Escherichia coli K12. 2. Kinetic properties.
}}

{{PMID Auto
|PMID=16596947
|Title=Spectrum of CFTR mutations on Reunion Island: impact on neonatal screening.
}}

{{PMID Auto
|PMID=16678503
|Title=Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.
}}

{{PMID Auto
|PMID=17003641
|Title=Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
}}

{{PMID Auto
|PMID=17329263
|Title=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 Auto
|PMID=18304229
|Title=Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.
}}