rs121908759
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | cystic fibrosis carrier (most likely) |
| (G;G) | 0 | common in clinvar |
| Make rs121908759(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117592032 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908759 |
| dbSNP (classic) | rs121908759 |
| ClinGen | rs121908759 |
| ebi | rs121908759 |
| HLI | rs121908759 |
| Exac | rs121908759 |
| Gnomad | rs121908759 |
| Varsome | rs121908759 |
| LitVar | rs121908759 |
| Map | rs121908759 |
| PheGenI | rs121908759 |
| Biobank | rs121908759 |
| 1000 genomes | rs121908759 |
| hgdp | rs121908759 |
| ensembl | rs121908759 |
| geneview | rs121908759 |
| scholar | rs121908759 |
| rs121908759 | |
| pharmgkb | rs121908759 |
| gwascentral | rs121908759 |
| openSNP | rs121908759 |
| 23andMe | rs121908759 |
| SNPshot | rs121908759 |
| SNPdbe | rs121908759 |
| MSV3d | rs121908759 |
| GWAS Ctlg | rs121908759 |
| Max Magnitude | 3 |
rs121908759, also known as c.1865G>A, p.Gly622Asp and G622D, represents a pathogenic mutation in the CFTR gene, associated with cystic fibrosis if inherited recessively, according to ClinVar.
In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 18.2% of wild-type CFTR activity.[PMID 29805046
]
| ClinVar | |
|---|---|
| Risk | rs121908759(A;A) |
| Alt | rs121908759(A;A) |
| Reference | Rs121908759(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232086G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046498.3, RCV000357137.1, |
[PMID 20435887] C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.
