rs121908799
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AA;AA) | 0 | common in clinvar |
| (AA;G) | 3 | carrier of a cystic fibrosis allele |
| Make rs121908799(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117592218 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908799 |
| dbSNP (classic) | rs121908799 |
| ClinGen | rs121908799 |
| ebi | rs121908799 |
| HLI | rs121908799 |
| Exac | rs121908799 |
| Gnomad | rs121908799 |
| Varsome | rs121908799 |
| LitVar | rs121908799 |
| Map | rs121908799 |
| PheGenI | rs121908799 |
| Biobank | rs121908799 |
| 1000 genomes | rs121908799 |
| hgdp | rs121908799 |
| ensembl | rs121908799 |
| geneview | rs121908799 |
| scholar | rs121908799 |
| rs121908799 | |
| pharmgkb | rs121908799 |
| gwascentral | rs121908799 |
| openSNP | rs121908799 |
| 23andMe | rs121908799 |
| SNPshot | rs121908799 |
| SNPdbe | rs121908799 |
| MSV3d | rs121908799 |
| GWAS Ctlg | rs121908799 |
| Max Magnitude | 3 |
rs121908799, also known as 2183AA->G, 2051_2052delAAinsG and Lys684SerfsTer38, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe refers to this SNP as i5011482 and i4000319
| ClinVar | |
|---|---|
| Risk | rs121908799(G;G) |
| Alt | rs121908799(G;G) |
| Reference | Rs121908799(AA;AA) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232272_117232273delAAinsG |
| CLNSRC | CFTR2 |
| CLNACC | RCV000029492.5, RCV000355254.1, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 7517268] Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
[PMID 7543317] Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
[PMID 15176679] Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
