{{Rsnum
|rsid=113993960
|Gene=CFTR
|Chromosome=7
|position=117559592
|Orientation=plus
|Summary=cystic fibrosis, delta F508 
|geno1=(-;-)
|geno2=(-;CTT)
|geno3=(CTT;CTT)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CFTR
}}One of the best-known genetic mutations, [[rs113993960]] is also called delta508 or delta F508. It results in the loss of a phenylalanine (F) residue at amino acid position 508 of the [[cystic fibrosis]] [[CFTR]] gene. As first reported in 1989, about 70% of all [[cystic fibrosis]] patients carry this mutation. {{PMID|2567116|OA=1
}}

Cystic fibrosis is inherited in a recessive manner, so homozygotes for [[rs113993960]](-;-), and less commonly, compound heterozygotes carrying one [[rs113993960]](-) allele in addition to one other nonfunctional [[CFTR]] variant, are prone to developing [[cystic fibrosis]].

See also [[i3000001]] (the designation used by 23andMe for this SNP).{{ClinVar
|rsid=113993960
|Reversed=0
|FwdREF=CTT
|FwdALT=
|REF=TCTT
|ALT=T
|RSPOS=117199645
|CHROM=7
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000000000002110200
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117199646_117199648delCTT
|CLNSRC=CFTR2; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=F508del; GTR000074114; GTR000257096; 602421.0001
|CLNSIG=5
|CLNCUI=C0010674; C0010674
|CLNDBN=Cystic fibrosis; Bronchiectasis with or without elevated sweat chloride 1, modifier of; not provided
|Disease=Cystic fibrosis; Bronchiectasis with or without elevated sweat chloride 1; not provided
|CLNACC=RCV000007523.6; RCV000007524.2; RCV000058929.2
|Tags=PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008
}}{{PMID Auto
|PMID=15948195
|Title=Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
}}