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rs45517179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Tuberous sclerosis
(T;T) 5 Tuberous sclerosis
ReferenceGRCh38 38.1/141
Chromosome16
Position2064341
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517179
ebirs45517179
HLIrs45517179
Exacrs45517179
Varsomers45517179
Maprs45517179
PheGenIrs45517179
hapmaprs45517179
1000 genomesrs45517179
hgdprs45517179
ensemblrs45517179
gopubmedrs45517179
geneviewrs45517179
scholarrs45517179
googlers45517179
pharmgkbrs45517179
gwascentralrs45517179
openSNPrs45517179
23andMers45517179
23andMe allrs45517179
SNP Nexus

SNPshotrs45517179
SNPdbers45517179
MSV3drs45517179
GWAS Ctlgrs45517179
Max Magnitude5

rs45517179 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9463313OA-icon.png]

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 191092.0005

OMIM191092
Desc
Variant0005
Relatedalso


ClinVar
Risk rs45517179(T;T)
Alt rs45517179(T;T)
Reference rs45517179(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed 0
HGVS NC_000016.9:g.2114342C>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013204.23, RCV000043399.2, RCV000055539.1,



[PMID 16981] [Standard method for the determination of creatine kinase activity].


[PMID 10205261OA-icon.png] Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.


[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.


[PMID 16981987OA-icon.png] Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.