rs386833629
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs386833629(G;G) |
| Make rs386833629(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40092522 |
| Gene | PPT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833629 |
| dbSNP (classic) | rs386833629 |
| ClinGen | rs386833629 |
| ebi | rs386833629 |
| HLI | rs386833629 |
| Exac | rs386833629 |
| Gnomad | rs386833629 |
| Varsome | rs386833629 |
| LitVar | rs386833629 |
| Map | rs386833629 |
| PheGenI | rs386833629 |
| Biobank | rs386833629 |
| 1000 genomes | rs386833629 |
| hgdp | rs386833629 |
| ensembl | rs386833629 |
| geneview | rs386833629 |
| scholar | rs386833629 |
| rs386833629 | |
| pharmgkb | rs386833629 |
| gwascentral | rs386833629 |
| openSNP | rs386833629 |
| 23andMe | rs386833629 |
| SNPshot | rs386833629 |
| SNPdbe | rs386833629 |
| MSV3d | rs386833629 |
| GWAS Ctlg | rs386833629 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833629(G;G) |
| Alt | rs386833629(G;G) |
| Reference | Rs386833629(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 1 |
| Variation | info |
| Gene | PPT1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.40558194A>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000049588.1, |
[PMID 19302939] Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
