rs56144125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a CLN2 disease mutation |
| (G;G) | 8.8 | CLN2 disease (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 6617154 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56144125 |
| dbSNP (classic) | rs56144125 |
| ClinGen | rs56144125 |
| ebi | rs56144125 |
| HLI | rs56144125 |
| Exac | rs56144125 |
| Gnomad | rs56144125 |
| Varsome | rs56144125 |
| LitVar | rs56144125 |
| Map | rs56144125 |
| PheGenI | rs56144125 |
| Biobank | rs56144125 |
| 1000 genomes | rs56144125 |
| hgdp | rs56144125 |
| ensembl | rs56144125 |
| geneview | rs56144125 |
| scholar | rs56144125 |
| rs56144125 | |
| pharmgkb | rs56144125 |
| gwascentral | rs56144125 |
| openSNP | rs56144125 |
| 23andMe | rs56144125 |
| SNPshot | rs56144125 |
| SNPdbe | rs56144125 |
| MSV3d | rs56144125 |
| GWAS Ctlg | rs56144125 |
| Max Magnitude | 8.8 |
rs56144125, also known as c.509-1G>C, is one of two recessively inherited mutations in the TPP1 (aka CLN2) gene, one of which is present in ~80% of patients with CLN2 disease (neuronal ceroid lipofuscinosis).[PMID 21990111]
Caregivers and families with a suspected CLN2 mutation-based patient are encouraged to reach out to patient advocacy groups and related healthcare practitioners, for example the Batten disease community or the CLN2 Connection, since CLN2-specific disease management strategies can greatly impact patient outcomes when implemented in a timely and appropriate manner.
| ClinVar | |
|---|---|
| Risk | rs56144125(A;A) Rs56144125(G;G) rs56144125(T;T) |
| Alt | rs56144125(A;A) Rs56144125(G;G) rs56144125(T;T) |
| Reference | Rs56144125(C;C) |
| Significance | Pathogenic |
| Disease | not provided Ceroid lipofuscinosis neuronal 2 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Inborn genetic diseases Neuronal ceroid lipofuscinosis |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | not provided Ceroid lipofuscinosis neuronal 2 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Inborn genetic diseases Neuronal ceroid lipofuscinosis |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6638385C>A; NC_000011.9:g.6638385C>G; NC_000011.9:g.6638385C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000391641.1, RCV000002763.11, RCV000074608.7, RCV000189765.4, RCV000210689.1, RCV000228119.2, RCV000189764.3, |
