{{Rsnum
|rsid=193922506
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CFTR
|position=117595036
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922506
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=117235090
|CHROM=7
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117235090G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cystic fibrosis
|Disease=Cystic fibrosis
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029498.2
|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|7521710}} Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

{{PMID|8844213}} Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

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

{{PMID|11379874}} Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

{{PMID|12124743}} Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.