rs386833969
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5 | neuronal ceroid lipofuscinosis, CLN-5 related allele |
| (-;AT) | 3 | carrier for neuronal ceroid lipofuscinosis CLN-5 related allele |
| (AT;AT) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 77000920 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833969 |
| dbSNP (classic) | rs386833969 |
| ClinGen | rs386833969 |
| ebi | rs386833969 |
| HLI | rs386833969 |
| Exac | rs386833969 |
| Gnomad | rs386833969 |
| Varsome | rs386833969 |
| LitVar | rs386833969 |
| Map | rs386833969 |
| PheGenI | rs386833969 |
| Biobank | rs386833969 |
| 1000 genomes | rs386833969 |
| hgdp | rs386833969 |
| ensembl | rs386833969 |
| geneview | rs386833969 |
| scholar | rs386833969 |
| rs386833969 | |
| pharmgkb | rs386833969 |
| gwascentral | rs386833969 |
| openSNP | rs386833969 |
| 23andMe | rs386833969 |
| SNPshot | rs386833969 |
| SNPdbe | rs386833969 |
| MSV3d | rs386833969 |
| GWAS Ctlg | rs386833969 |
| Max Magnitude | 5 |
aka c.1175_1176delAT (p.Tyr392Terfs)
| ClinVar | |
|---|---|
| Risk | Rs386833969(-;-) |
| Alt | Rs386833969(-;-) |
| Reference | Rs386833969(AT;AT) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 not provided |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77575055_77575056delAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002673.6, RCV000484812.1, |
[PMID 9662406] CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
