rs140980397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs140980397(C;C) |
| Make rs140980397(C;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 152308956 |
| Gene | FLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140980397 |
| dbSNP (classic) | rs140980397 |
| ClinGen | rs140980397 |
| ebi | rs140980397 |
| HLI | rs140980397 |
| Exac | rs140980397 |
| Gnomad | rs140980397 |
| Varsome | rs140980397 |
| LitVar | rs140980397 |
| Map | rs140980397 |
| PheGenI | rs140980397 |
| Biobank | rs140980397 |
| 1000 genomes | rs140980397 |
| hgdp | rs140980397 |
| ensembl | rs140980397 |
| geneview | rs140980397 |
| scholar | rs140980397 |
| rs140980397 | |
| pharmgkb | rs140980397 |
| gwascentral | rs140980397 |
| openSNP | rs140980397 |
| 23andMe | rs140980397 |
| SNPshot | rs140980397 |
| SNPdbe | rs140980397 |
| MSV3d | rs140980397 |
| GWAS Ctlg | rs140980397 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140980397(A;A) rs140980397(C;C) rs140980397(T;T) |
| Alt | rs140980397(A;A) rs140980397(C;C) rs140980397(T;T) |
| Reference | Rs140980397(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FLG |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152281432G>C |
| CLNSRC | |
| CLNACC | RCV000486896.1, |
The S1977X variant in the FLG gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction through protein truncation. The S1977X variant was not observed at any significant frequency inapproximately 6500 individuals of European and African American ancestry. [1]
