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rs45516293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.5 Tuberous sclerosis, relatively mild
(C;C) 4 Tuberous sclerosis, relatively mild
ReferenceGRCh38 38.1/141
Chromosome16
Position2084965
GeneTSC2
is asnp
is mentioned by
dbSNPrs45516293
ebirs45516293
HLIrs45516293
Exacrs45516293
Varsomers45516293
Maprs45516293
PheGenIrs45516293
hapmaprs45516293
1000 genomesrs45516293
hgdprs45516293
ensemblrs45516293
gopubmedrs45516293
geneviewrs45516293
scholarrs45516293
googlers45516293
pharmgkbrs45516293
gwascentralrs45516293
openSNPrs45516293
23andMers45516293
23andMe allrs45516293
SNP Nexus

SNPshotrs45516293
SNPdbers45516293
MSV3drs45516293
GWAS Ctlgrs45516293
Max Magnitude4

rs45516293 is a SNP in the TSC2 gene on chromosome 16, associated with tuberous sclerosis in an autosomal dominant manner.[PMID 11403047OA-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 191092.0011

OMIM191092
Desc
Variant0011
Relatedalso
OMIM191100
Desc
Variant
Relatedalso


ClinVar
Risk rs45516293(C;C)
Alt rs45516293(C;C)
Reference rs45516293(A;A)
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.2134966A>C
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013210.24, RCV000043266.2,



[PMID 11403047OA-icon.png] A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.


[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.