rs45517259
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Tuberous sclerosis, relatively mild |
| (A;G) | 6.3 | Tuberous Sclerosis Complex |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2076142 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45517259 |
| dbSNP (classic) | rs45517259 |
| ClinGen | rs45517259 |
| ebi | rs45517259 |
| HLI | rs45517259 |
| Exac | rs45517259 |
| Gnomad | rs45517259 |
| Varsome | rs45517259 |
| LitVar | rs45517259 |
| Map | rs45517259 |
| PheGenI | rs45517259 |
| Biobank | rs45517259 |
| 1000 genomes | rs45517259 |
| hgdp | rs45517259 |
| ensembl | rs45517259 |
| geneview | rs45517259 |
| scholar | rs45517259 |
| rs45517259 | |
| pharmgkb | rs45517259 |
| gwascentral | rs45517259 |
| openSNP | rs45517259 |
| 23andMe | rs45517259 |
| SNPshot | rs45517259 |
| SNPdbe | rs45517259 |
| MSV3d | rs45517259 |
| GWAS Ctlg | rs45517259 |
| Max Magnitude | 6.3 |
rs45517259 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 191092.0013
| ClinVar | |
|---|---|
| Risk | Rs45517259(A;A) |
| Alt | Rs45517259(A;A) |
| Reference | Rs45517259(G;G) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2126143G>A |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) UniProtKB (protein) |
| CLNACC | RCV000013212.17, RCV000042875.2, RCV000221069.1, RCV000255572.1, |
[PMID 9829910] Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
[PMID 11112665] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
[PMID 17120248] Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
