{{Rsnum
|rsid=145449046
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CFTR
|position=117592541
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=145449046
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=117232595
|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; 2
|CLNHGVS=NC_000007.13:g.117232595C>G; NC_000007.13:g.117232595C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Congenital bilateral absence of the vas deferens; Cystic fibrosis
|Disease=Congenital bilateral absence of the vas deferens; Cystic fibrosis
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029495.1; RCV000046585.2; RCV000046586.2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:CN032726:277180:48; NBK1250:C0010674:219700:586:190905008
}}{{PMID|9736778}} Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

{{PMID|10878476}} Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens.

{{PMID|12940920}} The phenotypic consequences of CFTR mutations.

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