rs113993960
| cystic fibrosis, delta F508 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Cystic Fibrosis; homozygote for delta F-508 mutation |
| (-;CTT) | 3 | carrier of a cystic fibrosis allele |
| (CTT;CTT) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117559592 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993960 |
| dbSNP (classic) | rs113993960 |
| ClinGen | rs113993960 |
| ebi | rs113993960 |
| HLI | rs113993960 |
| Exac | rs113993960 |
| Gnomad | rs113993960 |
| Varsome | rs113993960 |
| LitVar | rs113993960 |
| Map | rs113993960 |
| PheGenI | rs113993960 |
| Biobank | rs113993960 |
| 1000 genomes | rs113993960 |
| hgdp | rs113993960 |
| ensembl | rs113993960 |
| geneview | rs113993960 |
| scholar | rs113993960 |
| rs113993960 | |
| pharmgkb | rs113993960 |
| gwascentral | rs113993960 |
| openSNP | rs113993960 |
| 23andMe | rs113993960 |
| SNPshot | rs113993960 |
| SNPdbe | rs113993960 |
| MSV3d | rs113993960 |
| GWAS Ctlg | rs113993960 |
| Merged from | Rs199826652 |
| Max Magnitude | 8 |
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
]
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(-;-) rs113993960(TCT;TCT) |
| Alt | Rs113993960(-;-) rs113993960(TCT;TCT) |
| Reference | Rs113993960(CTT;CTT) |
| Significance | Other |
| Disease | Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 not provided Hereditary pancreatitis ivacaftor response - Efficacy ivacaftor / lumacaftor 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 ivacaftor / lumacaftor response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117199646_117199648delCTT |
| CLNSRC | HGMD OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000007523.14, RCV000007524.7, RCV000058929.7, RCV000119038.3, RCV000211188.1, RCV000417138.1, |
[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
