{{Rsnum
|rsid=144055758
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CFTR
|position=117610625
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=144055758
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=117250679
|CHROM=7
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117250679A>G
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cystic fibrosis
|Disease=Cystic fibrosis
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029516.2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
}}{{PMID|9272157}} Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

{{PMID|12133923}} Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

{{PMID|16801189}} Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

{{PMID|20059485}} Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?