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rs28934872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 Tuberous sclerosis
(A;G) 3.5 Tuberous sclerosis
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position2070571
GeneTSC2
is asnp
is mentioned by
dbSNPrs28934872
ebirs28934872
HLIrs28934872
Exacrs28934872
Varsomers28934872
Maprs28934872
PheGenIrs28934872
hapmaprs28934872
1000 genomesrs28934872
hgdprs28934872
ensemblrs28934872
gopubmedrs28934872
geneviewrs28934872
scholarrs28934872
googlers28934872
pharmgkbrs28934872
gwascentralrs28934872
openSNPrs28934872
23andMers28934872
23andMe allrs28934872
SNP Nexus

SNPshotrs28934872
SNPdbers28934872
MSV3drs28934872
GWAS Ctlgrs28934872
Max Magnitude4

rs28934872 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 191092.0006

OMIM191092
DescTUBEROUS SCLEROSIS 2
Variant0006
Relatedalso


ClinVar
Risk rs28934872(A;A)
Alt rs28934872(A;A)
Reference rs28934872(G;G)
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.2120572G>A
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013205.18, RCV000042946.2, RCV000055317.3,



[PMID 111126] [Effect of the trace element supply on element dependent enzymes in man].

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

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

[PMID 12111193] TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

[PMID 15595939] Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

[PMID 16032769] Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

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