rs45517214

plus

Geno	Mag	Summary
(G;G)	4	Tuberous sclerosis
(G;T)	6.3	Tuberous Sclerosis Complex
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

2072293

Gene

TSC2

is a	snp
is	mentioned by
dbSNP	rs45517214
dbSNP (classic)	rs45517214
ClinGen	rs45517214
ebi	rs45517214
HLI	rs45517214
Exac	rs45517214
Gnomad	rs45517214
Varsome	rs45517214
LitVar	rs45517214
Map	rs45517214
PheGenI	rs45517214
Biobank	rs45517214
1000 genomes	rs45517214
hgdp	rs45517214
ensembl	rs45517214
geneview	rs45517214
scholar	rs45517214
google	rs45517214
pharmgkb	rs45517214
gwascentral	rs45517214
openSNP	rs45517214
23andMe	rs45517214
SNPshot	rs45517214
SNPdbe	rs45517214
MSV3d	rs45517214
GWAS Ctlg	rs45517214

Max Magnitude

6.3

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 23788249 ]

See also OMIM 191092.0007

OMIM	191092
Desc
Variant	0007
Related	also

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) UniProtKB (protein)
CLNACC	RCV000013207.25, 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.