rs118203657
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | Classified as benign in ClinVar |
| (T;T) | 1 | Classified as benign in ClinVar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 132903665 |
| Gene | TSC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203657 |
| dbSNP (classic) | rs118203657 |
| ClinGen | rs118203657 |
| ebi | rs118203657 |
| HLI | rs118203657 |
| Exac | rs118203657 |
| Gnomad | rs118203657 |
| Varsome | rs118203657 |
| LitVar | rs118203657 |
| Map | rs118203657 |
| PheGenI | rs118203657 |
| Biobank | rs118203657 |
| 1000 genomes | rs118203657 |
| hgdp | rs118203657 |
| ensembl | rs118203657 |
| geneview | rs118203657 |
| scholar | rs118203657 |
| rs118203657 | |
| pharmgkb | rs118203657 |
| gwascentral | rs118203657 |
| openSNP | rs118203657 |
| 23andMe | rs118203657 |
| SNPshot | rs118203657 |
| SNPdbe | rs118203657 |
| MSV3d | rs118203657 |
| GWAS Ctlg | rs118203657 |
| GMAF | 0.002296 |
| Max Magnitude | 1 |
| ClinVar | |
|---|---|
| Risk | Rs118203657(T;T) |
| Alt | Rs118203657(T;T) |
| Reference | Rs118203657(C;C) |
| Significance | Other |
| Disease | Focal cortical dysplasia of Taylor type 2B Tuberous sclerosis 1 not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Focal cortical dysplasia of Taylor |
| Variation | info |
| Gene | TSC1 |
| CLNDBN | Focal cortical dysplasia of Taylor type 2B Tuberous sclerosis 1 not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Focal cortical dysplasia of Taylor |
| Reversed | 1 |
| HGVS | NC_000009.11:g.135779052G>A |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) UniProtKB (protein) |
| CLNACC | RCV000005409.3, RCV000005410.6, RCV000034607.7, RCV000054851.2, RCV000118692.4, RCV000129684.2, RCV000278906.1, |
[PMID 9328481] Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
[PMID 9863590
] Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
[PMID 9924605] Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
[PMID 10227394] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
[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.
