{{Rsnum
|rsid=193922497
|Gene=CFTR
|Chromosome=7
|position=117540284
|Orientation=plus
|GMAF=0.0004591
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|rsid=193922497
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=117180338
|CHROM=7
|GMAF=0.0005
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000016100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117180338C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cystic fibrosis
|Disease=Cystic fibrosis
|Tags=PM;PMC;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591
|CLNACC=RCV000029469.2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
|COMMON=0
|GENEINFO=CFTR:1080
|GENE_ID=1080
|GENE_NAME=CFTR
}}{{PMID Auto
|PMID=16126774
|Title=Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
}}

{{PMID Auto
|PMID=16189704
|Title=Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
}}

{{PMID Auto
|PMID=18421494
|Title=Mutations at arginine 352 alter the pore architecture of CFTR.
|OA=1
}}

{{PMID Auto
|PMID=19897426
|Title=A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
}}