rs45517258
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 4 | Tuberous sclerosis |
| (C;T) | 4 | Tuberous sclerosis |
| (T;T) | 5 | Tuberous sclerosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2076141 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45517258 |
| dbSNP (classic) | rs45517258 |
| ClinGen | rs45517258 |
| ebi | rs45517258 |
| HLI | rs45517258 |
| Exac | rs45517258 |
| Gnomad | rs45517258 |
| Varsome | rs45517258 |
| LitVar | rs45517258 |
| Map | rs45517258 |
| PheGenI | rs45517258 |
| Biobank | rs45517258 |
| 1000 genomes | rs45517258 |
| hgdp | rs45517258 |
| ensembl | rs45517258 |
| geneview | rs45517258 |
| scholar | rs45517258 |
| rs45517258 | |
| pharmgkb | rs45517258 |
| gwascentral | rs45517258 |
| openSNP | rs45517258 |
| 23andMe | rs45517258 |
| SNPshot | rs45517258 |
| SNPdbe | rs45517258 |
| MSV3d | rs45517258 |
| GWAS Ctlg | rs45517258 |
| Max Magnitude | 5 |
rs45517258 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 17120248]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
See also OMIM 191092.0014 and OMIM 191092.0015
| ClinVar | |
|---|---|
| Risk | rs45517258(G;G) Rs45517258(T;T) |
| Alt | rs45517258(G;G) Rs45517258(T;T) |
| Reference | Rs45517258(C;C) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome not provided |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2126142C>G; NC_000016.9:g.2126142C>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) UniProtKB (protein) |
| CLNACC | RCV000013214.25, RCV000042482.2, RCV000013213.24, RCV000042962.2, RCV000482063.1, |
[PMID 12015165] Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
[PMID 15798] Fengnan County's heroic barefoot doctors.
[PMID 10607950] Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
[PMID 14641237] A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
[PMID 15798777] Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
[PMID 17120248] Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
