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rs45483392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Tuberous sclerosis
(T;T) 4 Tuberous sclerosis
ReferenceGRCh38 38.1/141
Chromosome16
Position2087897
GeneTSC2
is asnp
is mentioned by
dbSNPrs45483392
ebirs45483392
HLIrs45483392
Exacrs45483392
Varsomers45483392
Maprs45483392
PheGenIrs45483392
hapmaprs45483392
1000 genomesrs45483392
hgdprs45483392
ensemblrs45483392
gopubmedrs45483392
geneviewrs45483392
scholarrs45483392
googlers45483392
pharmgkbrs45483392
gwascentralrs45483392
openSNPrs45483392
23andMers45483392
23andMe allrs45483392
SNP Nexus

SNPshotrs45483392
SNPdbers45483392
MSV3drs45483392
GWAS Ctlgrs45483392
Max Magnitude4

rs45483392 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 9302281]

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 191092.0009

OMIM191092
Desc
Variant0009
Relatedalso


ClinVar
Risk rs45483392(T;T)
Alt rs45483392(T;T)
Reference rs45483392(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.2137898C>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013201.23, RCV000043065.2, RCV000055436.1,



[PMID 9302281] The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.


[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.


[PMID 10570911] Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.