rs45517179
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.3 | Tuberous Sclerosis Complex |
| (T;T) | 5 | Tuberous sclerosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2064341 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45517179 |
| dbSNP (classic) | rs45517179 |
| ClinGen | rs45517179 |
| ebi | rs45517179 |
| HLI | rs45517179 |
| Exac | rs45517179 |
| Gnomad | rs45517179 |
| Varsome | rs45517179 |
| LitVar | rs45517179 |
| Map | rs45517179 |
| PheGenI | rs45517179 |
| Biobank | rs45517179 |
| 1000 genomes | rs45517179 |
| hgdp | rs45517179 |
| ensembl | rs45517179 |
| geneview | rs45517179 |
| scholar | rs45517179 |
| rs45517179 | |
| pharmgkb | rs45517179 |
| gwascentral | rs45517179 |
| openSNP | rs45517179 |
| 23andMe | rs45517179 |
| SNPshot | rs45517179 |
| SNPdbe | rs45517179 |
| MSV3d | rs45517179 |
| GWAS Ctlg | rs45517179 |
| Max Magnitude | 6.3 |
rs45517179 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9463313
]
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 191092.0005
| ClinVar | |
|---|---|
| Risk | Rs45517179(T;T) |
| Alt | Rs45517179(T;T) |
| Reference | Rs45517179(C;C) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2114342C>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000013204.24, RCV000043399.2, RCV000055539.1, |
[PMID 16981] [Standard method for the determination of creatine kinase activity].
[PMID 10205261] Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
[PMID 16981987] Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
