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rs45517258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Tuberous sclerosis
(C;T) 4 Tuberous sclerosis
(T;T) 5 Tuberous sclerosis
ReferenceGRCh38 38.1/141
Chromosome16
Position2076141
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517258
ebirs45517258
HLIrs45517258
Exacrs45517258
Varsomers45517258
Maprs45517258
PheGenIrs45517258
hapmaprs45517258
1000 genomesrs45517258
hgdprs45517258
ensemblrs45517258
gopubmedrs45517258
geneviewrs45517258
scholarrs45517258
googlers45517258
pharmgkbrs45517258
gwascentralrs45517258
openSNPrs45517258
23andMers45517258
23andMe allrs45517258
SNP Nexus

SNPshotrs45517258
SNPdbers45517258
MSV3drs45517258
GWAS Ctlgrs45517258
Max Magnitude5

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 23788249OA-icon.png]

See also OMIM 191092.0014 and OMIM 191092.0015

OMIM191092
Desc
Variant0014
Relatedalso
OMIM191092
Desc
Variant0015
Relatedalso


ClinVar
Risk rs45517258(G,T;G,T)
Alt rs45517258(G,T;G,T)
Reference rs45517258(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2126142C>G; NC_000016.9:g.2126142C>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013214.24, RCV000042482.2, RCV000013213.23, RCV000042962.2,



[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.