rs672601312
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of an immunodeficiency mutation |
| (T;T) | 3 | Causes a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial disease |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 1014359 |
| Gene | ISG15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs672601312 |
| dbSNP (classic) | rs672601312 |
| ClinGen | rs672601312 |
| ebi | rs672601312 |
| HLI | rs672601312 |
| Exac | rs672601312 |
| Gnomad | rs672601312 |
| Varsome | rs672601312 |
| LitVar | rs672601312 |
| Map | rs672601312 |
| PheGenI | rs672601312 |
| Biobank | rs672601312 |
| 1000 genomes | rs672601312 |
| hgdp | rs672601312 |
| ensembl | rs672601312 |
| geneview | rs672601312 |
| scholar | rs672601312 |
| rs672601312 | |
| pharmgkb | rs672601312 |
| gwascentral | rs672601312 |
| openSNP | rs672601312 |
| 23andMe | rs672601312 |
| SNPshot | rs672601312 |
| SNPdbe | rs672601312 |
| MSV3d | rs672601312 |
| GWAS Ctlg | rs672601312 |
| Max Magnitude | 3 |
c.379G>T (p.Glu127Ter or E127X)
see also OMIM 147571.0001
| ClinVar | |
|---|---|
| Risk | Rs672601312(T;T) |
| Alt | Rs672601312(T;T) |
| Reference | Rs672601312(G;G) |
| Significance | Pathogenic |
| Disease | Immunodeficiency 38 with basal ganglia calcification |
| Variation | info |
| Gene | ISG15 |
| CLNDBN | Immunodeficiency 38 with basal ganglia calcification |
| Reversed | 0 |
| HGVS | NC_000001.10:g.949739G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000148988.5, |
