rs45483392
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.3 | Tuberous Sclerosis Complex |
| (T;T) | 4 | Tuberous sclerosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2087897 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45483392 |
| dbSNP (classic) | rs45483392 |
| ClinGen | rs45483392 |
| ebi | rs45483392 |
| HLI | rs45483392 |
| Exac | rs45483392 |
| Gnomad | rs45483392 |
| Varsome | rs45483392 |
| LitVar | rs45483392 |
| Map | rs45483392 |
| PheGenI | rs45483392 |
| Biobank | rs45483392 |
| 1000 genomes | rs45483392 |
| hgdp | rs45483392 |
| ensembl | rs45483392 |
| geneview | rs45483392 |
| scholar | rs45483392 |
| rs45483392 | |
| pharmgkb | rs45483392 |
| gwascentral | rs45483392 |
| openSNP | rs45483392 |
| 23andMe | rs45483392 |
| SNPshot | rs45483392 |
| SNPdbe | rs45483392 |
| MSV3d | rs45483392 |
| GWAS Ctlg | rs45483392 |
| Max Magnitude | 6.3 |
rs45483392 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9302281]
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 191092.0009
| ClinVar | |
|---|---|
| Risk | Rs45483392(T;T) |
| Alt | Rs45483392(T;T) |
| Reference | Rs45483392(C;C) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2137898C>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) UniProtKB (protein) |
| CLNACC | RCV000013201.24, RCV000043065.2, RCV000055436.1, RCV000493720.1, |
[PMID 9302281] The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
[PMID 10570911] Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
