{{Rsnum
|rsid=77932196
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CFTR
|position=117540270
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CFTR
}}{{omim
|id=602421
|rsnum=77932196
|variant=0006
}}
{{omim
|id=602421
|rsnum=77932196
|variant=0067
}}
{{omim
|id=602421
|rsnum=77932196
|variant=0078
}}{{ClinVar
|rsid=77932196
|Reversed=0
|FwdREF=G
|FwdALT=A,C,T
|REF=G
|ALT=A,C,T
|RSPOS=117180324
|CHROM=7
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050068000000000402110104
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000007.13:g.117180324G>A; NC_000007.13:g.117180324G>C; NC_000007.13:g.117180324G>T
|CLNSRC=CFTR2; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=R347H; GTR000074114; GTR000257096; GTR000500233; 602421.0078; R347P; 602421.0006; 602421.0067
|CLNSIG=5
|CLNCUI=C0010674
|CLNDBN=Cystic fibrosis; Nonclassic cystic fibrosis
|Disease=Cystic fibrosis; Nonclassic cystic fibrosis
|CLNACC=RCV000007602.3; RCV000029468.1; RCV000007530.6; RCV000007591.2
|Tags=PM;PMC;HD;OTHERKG;LSD;OM;NOV
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008; NBK1250
}}{{PMID|11388756}} Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.