{{Rsnum
|rsid=193922504
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CFTR
|position=117587827
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922504
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=117227881
|CHROM=7
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117227881T>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cystic fibrosis
|Disease=Cystic fibrosis
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000029483.2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
|GENEINFO=CFTR:1080
|GENE_ID=1080
|GENE_NAME=CFTR
}}{{PMID|1284534}} Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

{{PMID|7525450}} Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

{{PMID|7542223}} Study of 12 mutations in Turkish cystic fibrosis patients.

{{PMID|10798368}} Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).

{{PMID|10923036}} Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

{{PMID|17331079}} Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.