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rs45517259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 Tuberous sclerosis, relatively mild
(A;G) 3.5 Tuberous sclerosis, relatively mild
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position2076142
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517259
ebirs45517259
HLIrs45517259
Exacrs45517259
Varsomers45517259
Maprs45517259
PheGenIrs45517259
hapmaprs45517259
1000 genomesrs45517259
hgdprs45517259
ensemblrs45517259
gopubmedrs45517259
geneviewrs45517259
scholarrs45517259
googlers45517259
pharmgkbrs45517259
gwascentralrs45517259
openSNPrs45517259
23andMers45517259
23andMe allrs45517259
SNP Nexus

SNPshotrs45517259
SNPdbers45517259
MSV3drs45517259
GWAS Ctlgrs45517259
Max Magnitude4

rs45517259 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 191092.0013

OMIM191092
Desc
Variant0013
Relatedalso


ClinVar
Risk rs45517259(A;A)
Alt rs45517259(A;A)
Reference rs45517259(G;G)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000016.9:g.2126143G>A
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013212.16, RCV000042875.2, RCV000221069.1,



[PMID 9829910] Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.


[PMID 11112665OA-icon.png] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.


[PMID 17120248] Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.