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.