{{Rsnum
|rsid=75096551
|Gene=CFTR
|Chromosome=7
|position=117606754
|Orientation=plus
|GMAF=0.0004591
|Gene_s=CFTR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=75096551
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=117246808
|CHROM=7
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050068000000000416110100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117246808G>A
|CLNSRC=CFTR2; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=3120+1G->A; GTR000074114; GTR000257096; GTR000500233; 602421.0120
|CLNSIG=5
|CLNCUI=C0010674; C0010674; C0010674
|CLNDBN=Cystic fibrosis; not provided
|Disease=Cystic fibrosis; not provided
|CLNACC=RCV000007645.6; RCV000078989.1
|Tags=PM;PMC;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
|COMMON=0
}}{{PMID|11388756}} Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

{{PMID|19092437|OA=1
}} Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.