rs142991475
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142991475(A;A) |
| Make rs142991475(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 152313823 |
| Gene | FLG, FLG-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142991475 |
| dbSNP (classic) | rs142991475 |
| ClinGen | rs142991475 |
| ebi | rs142991475 |
| HLI | rs142991475 |
| Exac | rs142991475 |
| Gnomad | rs142991475 |
| Varsome | rs142991475 |
| LitVar | rs142991475 |
| Map | rs142991475 |
| PheGenI | rs142991475 |
| Biobank | rs142991475 |
| 1000 genomes | rs142991475 |
| hgdp | rs142991475 |
| ensembl | rs142991475 |
| geneview | rs142991475 |
| scholar | rs142991475 |
| rs142991475 | |
| pharmgkb | rs142991475 |
| gwascentral | rs142991475 |
| openSNP | rs142991475 |
| 23andMe | rs142991475 |
| SNPshot | rs142991475 |
| SNPdbe | rs142991475 |
| MSV3d | rs142991475 |
| GWAS Ctlg | rs142991475 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142991475(A;A) rs142991475(T;T) |
| Alt | rs142991475(A;A) rs142991475(T;T) |
| Reference | Rs142991475(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FLG FLG-AS1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152286299G>A |
| CLNSRC | |
| CLNACC | RCV000342574.1, |
The Q355X pathogenic 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 Q355X variant was not observed in the homozgyous state or at any significant frequency in approximately 6500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. We interpret Q355X as a pathogenic variant. [1]
