rs121908812
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 3 | cystic fibrosis carrier |
| (T;T) | 0 | common in clinvar |
| Make rs121908812(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117592179 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908812 |
| dbSNP (classic) | rs121908812 |
| ClinGen | rs121908812 |
| ebi | rs121908812 |
| HLI | rs121908812 |
| Exac | rs121908812 |
| Gnomad | rs121908812 |
| Varsome | rs121908812 |
| LitVar | rs121908812 |
| Map | rs121908812 |
| PheGenI | rs121908812 |
| Biobank | rs121908812 |
| 1000 genomes | rs121908812 |
| hgdp | rs121908812 |
| ensembl | rs121908812 |
| geneview | rs121908812 |
| scholar | rs121908812 |
| rs121908812 | |
| pharmgkb | rs121908812 |
| gwascentral | rs121908812 |
| openSNP | rs121908812 |
| 23andMe | rs121908812 |
| SNPshot | rs121908812 |
| SNPdbe | rs121908812 |
| MSV3d | rs121908812 |
| GWAS Ctlg | rs121908812 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2012delT, p.Leu671Terfs
named i5011475 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs121908812(-;-) |
| Alt | rs121908812(-;-) |
| Reference | Rs121908812(T;T) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232233delT |
| CLNSRC | CFTR2 Cystic Fibrosis Mutation Database |
| CLNACC | RCV000029491.4, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
[PMID 1283149] A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.
[PMID 9162681] [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].
[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
[PMID 16051530] Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
