{{Rsnum
|rsid=113993959
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=7
|Orientation=plus
|Gene=CFTR
|position=117587778
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CFTR
}}[[rs113993959]], also known as G542X, is a SNP in the [[CFTR]] cystic fibrosis gene. This mutation is fairly rare, but in [[Ashkenazi Jews]] it accounts for ~13% of all cases of [[cystic fibrosis]]. See also [http://www.ncbi.nlm.nih.gov/omim/602421#602421Variants0009 OMIM 602421.0009].
{{omim
|id=602421
|rsnum=113993959
|variant=0009
}}{{ClinVar
|rsid=113993959
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=117227832
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000040002110100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117227832G>T
|CLNSRC=CFTR2; Emory University; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=G542X; 9829; GTR000074114; GTR000500233; 602421.0009; 602421.0095
|CLNSIG=5
|CLNCUI=C0010674
|CLNDBN=Cystic fibrosis; not provided
|Disease=Cystic fibrosis; not provided
|CLNACC=RCV000007535.6; RCV000058931.2
|Tags=PM;PMC;S3D;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
}}{{PMID Auto
|PMID=1867536
|Title=Hepatic venous oxygen saturation monitoring in patients with assisted circulation for severe cardiac failure.
}}

{{PMID Auto
|PMID=15948195
|Title=Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
}}