rs45516293
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3.5 | Tuberous sclerosis, relatively mild |
| (C;C) | 4 | Tuberous sclerosis, relatively mild |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2084965 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45516293 |
| dbSNP (classic) | rs45516293 |
| ClinGen | rs45516293 |
| ebi | rs45516293 |
| HLI | rs45516293 |
| Exac | rs45516293 |
| Gnomad | rs45516293 |
| Varsome | rs45516293 |
| LitVar | rs45516293 |
| Map | rs45516293 |
| PheGenI | rs45516293 |
| Biobank | rs45516293 |
| 1000 genomes | rs45516293 |
| hgdp | rs45516293 |
| ensembl | rs45516293 |
| geneview | rs45516293 |
| scholar | rs45516293 |
| rs45516293 | |
| pharmgkb | rs45516293 |
| gwascentral | rs45516293 |
| openSNP | rs45516293 |
| 23andMe | rs45516293 |
| SNPshot | rs45516293 |
| SNPdbe | rs45516293 |
| MSV3d | rs45516293 |
| GWAS Ctlg | rs45516293 |
| Max Magnitude | 4 |
rs45516293 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 11403047
]
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 191092.0011
| ClinVar | |
|---|---|
| Risk | Rs45516293(C;C) |
| Alt | Rs45516293(C;C) |
| Reference | Rs45516293(A;A) |
| 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.2134966A>C |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000013210.25, RCV000043266.2, RCV000492813.1, |
[PMID 11403047] A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
