{{Rsnum
|rsid=193922501
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CFTR
|position=117480108
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922501
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=117120162
|CHROM=7
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117120162C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cystic fibrosis
|Disease=Cystic fibrosis
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029477.2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
|GENEINFO=CFTR:1080
|GENE_ID=1080
|GENE_NAME=CFTR
}}{{PMID|18306}} Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases.

{{PMID|17235394|OA=1
}} Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

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

{{PMID|17594397}} Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.

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

{{PMID|20351101|OA=1
}} Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.