rs45517258
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 4 | Tuberous sclerosis |
(C;T) | 4 | Tuberous sclerosis |
(T;T) | 5 | Tuberous sclerosis |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2076141 |
Gene | TSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs45517258 |
dbSNP (classic) | rs45517258 |
ClinGen | rs45517258 |
ebi | rs45517258 |
HLI | rs45517258 |
Exac | rs45517258 |
Gnomad | rs45517258 |
Varsome | rs45517258 |
LitVar | rs45517258 |
Map | rs45517258 |
PheGenI | rs45517258 |
Biobank | rs45517258 |
1000 genomes | rs45517258 |
hgdp | rs45517258 |
ensembl | rs45517258 |
geneview | rs45517258 |
scholar | rs45517258 |
rs45517258 | |
pharmgkb | rs45517258 |
gwascentral | rs45517258 |
openSNP | rs45517258 |
23andMe | rs45517258 |
SNPshot | rs45517258 |
SNPdbe | rs45517258 |
MSV3d | rs45517258 |
GWAS Ctlg | rs45517258 |
Max Magnitude | 5 |
rs45517258 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 191092.0014 and OMIM 191092.0015
ClinVar | |
---|---|
Risk | rs45517258(G;G) Rs45517258(T;T) |
Alt | rs45517258(G;G) Rs45517258(T;T) |
Reference | Rs45517258(C;C) |
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.2126142C>G; NC_000016.9:g.2126142C>T |
CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) UniProtKB (protein) |
CLNACC | RCV000013214.25, RCV000042482.2, RCV000013213.24, RCV000042962.2, RCV000482063.1, |
[PMID 12015165] Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
[PMID 15798] Fengnan County's heroic barefoot doctors.
[PMID 10607950] Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
[PMID 14641237] A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
[PMID 15798777] Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
[PMID 17120248] Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.