rs386833442
From SNPedia
| Merged into | rs796943858 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TC;TC) | 0 | common in clinvar |
| Make rs386833442(-;-) |
| Make rs386833442(-;TC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 43774280 |
| Gene | CSTB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833442 |
| dbSNP (classic) | rs386833442 |
| ClinGen | rs386833442 |
| ebi | rs386833442 |
| HLI | rs386833442 |
| Exac | rs386833442 |
| Gnomad | rs386833442 |
| Varsome | rs386833442 |
| LitVar | rs386833442 |
| Map | rs386833442 |
| PheGenI | rs386833442 |
| Biobank | rs386833442 |
| 1000 genomes | rs386833442 |
| hgdp | rs386833442 |
| ensembl | rs386833442 |
| geneview | rs386833442 |
| scholar | rs386833442 |
| rs386833442 | |
| pharmgkb | rs386833442 |
| gwascentral | rs386833442 |
| openSNP | rs386833442 |
| 23andMe | rs386833442 |
| SNPshot | rs386833442 |
| SNPdbe | rs386833442 |
| MSV3d | rs386833442 |
| GWAS Ctlg | rs386833442 |
| Status | Merged into rs796943858 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs386833442(TCC;TCC) Rs386833442(TC;TC) |
| Alt | Rs386833442(TCC;TCC) Rs386833442(TC;TC) |
| Reference | Rs386833442(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Unverricht-Lundborg syndrome |
| Variation | info |
| Gene | CSTB |
| CLNDBN | Unverricht-Lundborg syndrome |
| Reversed | 1 |
| HGVS | NC_000021.9:g.43774280_43774281delGA |
| CLNSRC | ClinVar |
| CLNACC | RCV000049369.1, |
[PMID 9012407
] Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
[PMID 9054946] Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
[PMID 9342192] Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
