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rs45517214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 4 Tuberous sclerosis
(G;T) 3.5 Tuberous sclerosis
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position2072293
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517214
ebirs45517214
HLIrs45517214
Exacrs45517214
Varsomers45517214
Maprs45517214
PheGenIrs45517214
hapmaprs45517214
1000 genomesrs45517214
hgdprs45517214
ensemblrs45517214
gopubmedrs45517214
geneviewrs45517214
scholarrs45517214
googlers45517214
pharmgkbrs45517214
gwascentralrs45517214
openSNPrs45517214
23andMers45517214
23andMe allrs45517214
SNP Nexus

SNPshotrs45517214
SNPdbers45517214
MSV3drs45517214
GWAS Ctlgrs45517214
Max Magnitude4

rs45517214 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 10069705]

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 191092.0007

OMIM191092
Desc
Variant0007
Relatedalso


ClinVar
Risk rs45517214(G;G)
Alt rs45517214(G;G)
Reference rs45517214(T;T)
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.2122294T>G
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013207.24, RCV000042452.2,



[PMID 10069705] Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

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