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rs75527207

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Double homozygote for cystic fibrosis G551D allele
(A;G) 3 Carrier for cystic fibrosis G551D allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position117587806
GeneCFTR
is asnp
is mentioned by
dbSNPrs75527207
ebirs75527207
HLIrs75527207
Exacrs75527207
Varsomers75527207
Maprs75527207
PheGenIrs75527207
hapmaprs75527207
1000 genomesrs75527207
hgdprs75527207
ensemblrs75527207
gopubmedrs75527207
geneviewrs75527207
scholarrs75527207
googlers75527207
pharmgkbrs75527207
gwascentralrs75527207
openSNPrs75527207
23andMers75527207
23andMe allrs75527207
SNP Nexus

SNPshotrs75527207
SNPdbers75527207
MSV3drs75527207
GWAS Ctlgrs75527207
Max Magnitude5
.

Known primarily as G551D (although sometimes also called G511D) and also known as i4000305 by 23andMe, rs75527207 is a rare variant in the cystic fibrosis CFTR gene is thought to be present in ~1,200 patients in the US. The risk allele is rs75527207(A). G551D is termed a 'gating mutant', and is considered to be a somewhat different class of cystic fibrosis mutation compared to variants that lead to misfolded proteins.

Like almost all cystic fibrosis variants, individuals must inherit two defective CFTR alleles to manifest the disease; since G551D is ~20 times rarer than the most common CFTR variant, deltaF508, patients carrying one G551D variant are likely to be compound heterozygotes harboring an additional CFTR variant.

In early 2012, the biotech company Vertex Pharmaceutics received FDA approval to sell the drug Kalydeco (ivacaftor) to G551D cystic fibrosis patients over the age of 6. In phase 3 trials, Kalydeco increased lung function by 10% (in 161 patients) compared to placebo, and showed improvements in weight gain along with reductions in cough and sputum production.10.1038/nbt0312-201a

See also: OMIM 602421.0013

additional names used by 23andMe for this SNP: i5006054, i5011331

OMIM602421
Desc
Variant0013
Relatedalso
ClinVar
Risk Rs75527207(A;A)
Alt Rs75527207(A;A)
Reference Rs75527207(G;G)
Significance Drug-response
Disease Cystic fibrosis Hereditary pancreatitis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Hereditary pancreatitis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117227860G>A
CLNSRC CFTR2 OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB UniProtKB (protein)
CLNACC RCV000007540.10, RCV000119040.2, RCV000211289.1,


[PMID 7522329OA-icon.png] Phosphatase inhibitors activate normal and defective CFTR chloride channels.


[PMID 7599637] A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.


[PMID 8166795] Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.


[PMID 10341008] Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme.


[PMID 10653141] Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.


[PMID 12767731] Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.