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rs113993960

From SNPedia

cystic fibrosis, delta F508
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Cystic Fibrosis; homozygote for delta F-508 mutation
(-;CTT) 3 carrier of a cystic fibrosis allele
(CTT;CTT) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position117559592
GeneCFTR
is asnp
is mentioned by
dbSNPrs113993960
ebirs113993960
HLIrs113993960
Exacrs113993960
Varsomers113993960
Maprs113993960
PheGenIrs113993960
hapmaprs113993960
1000 genomesrs113993960
hgdprs113993960
ensemblrs113993960
gopubmedrs113993960
geneviewrs113993960
scholarrs113993960
googlers113993960
pharmgkbrs113993960
gwascentralrs113993960
openSNPrs113993960
23andMers113993960
23andMe allrs113993960
SNP Nexus

SNPshotrs113993960
SNPdbers113993960
MSV3drs113993960
GWAS Ctlgrs113993960
Max Magnitude8
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 2567116OA-icon.png]

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 and i5011261 (the designations used by 23andMe for this SNP).

ClinVar
Risk rs113993960(;)
Alt rs113993960(;)
Reference rs113993960(TCT;TCT)
Significance Other
Disease Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 not provided Hereditary pancreatitis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1, modifier of not provided Hereditary pancreatitis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117199646_117199648delCTT
CLNSRC CFTR2 HGMD OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007523.13, RCV000007524.6, RCV000058929.4, RCV000119038.2, RCV000211188.1,


[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.