rs144419479
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs144419479(A;A) |
| Make rs144419479(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 152311957 |
| Gene | FLG, FLG-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144419479 |
| dbSNP (classic) | rs144419479 |
| ClinGen | rs144419479 |
| ebi | rs144419479 |
| HLI | rs144419479 |
| Exac | rs144419479 |
| Gnomad | rs144419479 |
| Varsome | rs144419479 |
| LitVar | rs144419479 |
| Map | rs144419479 |
| PheGenI | rs144419479 |
| Biobank | rs144419479 |
| 1000 genomes | rs144419479 |
| hgdp | rs144419479 |
| ensembl | rs144419479 |
| geneview | rs144419479 |
| scholar | rs144419479 |
| rs144419479 | |
| pharmgkb | rs144419479 |
| gwascentral | rs144419479 |
| openSNP | rs144419479 |
| 23andMe | rs144419479 |
| SNPshot | rs144419479 |
| SNPdbe | rs144419479 |
| MSV3d | rs144419479 |
| GWAS Ctlg | rs144419479 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144419479(A;A) rs144419479(C;C) |
| Alt | rs144419479(A;A) rs144419479(C;C) |
| Reference | Rs144419479(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FLG FLG-AS1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152284433G>A |
| CLNSRC | |
| CLNACC | RCV000255941.1, |
The Q977X variant in the FLG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q977X variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. [1]
