rs121434286
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121434286(A;A) |
| Make rs121434286(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 28482500 |
| Gene | CLN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434286 |
| dbSNP (classic) | rs121434286 |
| ClinGen | rs121434286 |
| ebi | rs121434286 |
| HLI | rs121434286 |
| Exac | rs121434286 |
| Gnomad | rs121434286 |
| Varsome | rs121434286 |
| LitVar | rs121434286 |
| Map | rs121434286 |
| PheGenI | rs121434286 |
| Biobank | rs121434286 |
| 1000 genomes | rs121434286 |
| hgdp | rs121434286 |
| ensembl | rs121434286 |
| geneview | rs121434286 |
| scholar | rs121434286 |
| rs121434286 | |
| pharmgkb | rs121434286 |
| gwascentral | rs121434286 |
| openSNP | rs121434286 |
| 23andMe | rs121434286 |
| SNPshot | rs121434286 |
| SNPdbe | rs121434286 |
| MSV3d | rs121434286 |
| GWAS Ctlg | rs121434286 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434286(A;A) rs121434286(T;T) |
| Alt | rs121434286(A;A) rs121434286(T;T) |
| Reference | Rs121434286(G;G) |
| Significance | Pathogenic |
| Disease | Juvenile neuronal ceroid lipofuscinosis Ceroid lipofuscinosis |
| Variation | info |
| Gene | CLN3 NPIPB8 |
| CLNDBN | Juvenile neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 3, protracted |
| Reversed | 1 |
| HGVS | NC_000016.9:g.28493821C>A; NC_000016.9:g.28493821C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000049702.1, RCV000003735.3, RCV000055839.1, |
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
