rs121908778
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | cystic fibrosis carrier |
(G;G) | 0 | common in clinvar |
Make rs121908778(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 117592078 |
is a | snp |
is | mentioned by |
dbSNP | rs121908778 |
dbSNP (classic) | rs121908778 |
ClinGen | rs121908778 |
ebi | rs121908778 |
HLI | rs121908778 |
Exac | rs121908778 |
Gnomad | rs121908778 |
Varsome | rs121908778 |
LitVar | rs121908778 |
Map | rs121908778 |
PheGenI | rs121908778 |
Biobank | rs121908778 |
1000 genomes | rs121908778 |
hgdp | rs121908778 |
ensembl | rs121908778 |
geneview | rs121908778 |
scholar | rs121908778 |
rs121908778 | |
pharmgkb | rs121908778 |
gwascentral | rs121908778 |
openSNP | rs121908778 |
23andMe | rs121908778 |
SNPshot | rs121908778 |
SNPdbe | rs121908778 |
MSV3d | rs121908778 |
GWAS Ctlg | rs121908778 |
Max Magnitude | 3 |
aka c.1911delG
ClinVar | |
---|---|
Risk | rs121908778(-;-) rs121908778(C;C) |
Alt | rs121908778(-;-) rs121908778(C;C) |
Reference | Rs121908778(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117232132delG |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029489.2, |
[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 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
[PMID 9521595] Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
[PMID 12521276] Cystic fibrosis transmembrane regulator gene mutations in Bahrain.
[PMID 20797923] Mutational spectrum of cystic fibrosis in the Lebanese population.