rs80358241
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (CTG;CTG) | 0 | common in clinvar |
| Make rs80358241(-;C) |
| Make rs80358241(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50084767 |
| Gene | MLC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358241 |
| dbSNP (classic) | rs80358241 |
| ClinGen | rs80358241 |
| ebi | rs80358241 |
| HLI | rs80358241 |
| Exac | rs80358241 |
| Gnomad | rs80358241 |
| Varsome | rs80358241 |
| LitVar | rs80358241 |
| Map | rs80358241 |
| PheGenI | rs80358241 |
| Biobank | rs80358241 |
| 1000 genomes | rs80358241 |
| hgdp | rs80358241 |
| ensembl | rs80358241 |
| geneview | rs80358241 |
| scholar | rs80358241 |
| rs80358241 | |
| pharmgkb | rs80358241 |
| gwascentral | rs80358241 |
| openSNP | rs80358241 |
| 23andMe | rs80358241 |
| SNPshot | rs80358241 |
| SNPdbe | rs80358241 |
| MSV3d | rs80358241 |
| GWAS Ctlg | rs80358241 |
| Max Magnitude | 0 |
MLC1 c.135insC
| ClinVar | |
|---|---|
| Risk | rs80358241(C;C) |
| Alt | rs80358241(C;C) |
| Reference | Rs80358241(-;-) |
| Significance | Pathogenic |
| Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Variation | info |
| Gene | MLC1 |
| CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Reversed | 1 |
| HGVS | NC_000022.10:g.50523197dupG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004987.4, |
[PMID 11935341] Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
[PMID 12189496] Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
