chr16:2064275:G>T Detail (hg38) (TSC2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:2,114,276-2,114,276 View the variant detail on this assembly version.
hg38	chr16:2,064,275-2,064,275

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.1447G>T	NP_000539.2:p.Glu483Ter
	NM_001114382.2:c.1447G>T	NP_001107854.1:p.Glu483Ter
	NM_001318829.1:c.1300G>T	NP_001305758.1:p.Glu434Ter
	NM_001077183.2:c.1447G>T	NP_001070651.1:p.Glu483Ter
	NM_001318827.1:c.1336G>T	NP_001305756.1:p.Glu446Ter
	NM_001318831.1:c.1336G>T	NP_001305760.1:p.Glu446Ter
	NM_001318832.1:c.1480G>T	NP_001305761.1:p.Glu494Ter
Ensemble	ENST00000219476.9:c.1447G>T	ENST00000219476.9:p.Glu483Ter
	ENST00000350773.9:c.1447G>T	ENST00000350773.9:p.Glu483Ter
	ENST00000382538.10:c.1300G>T	ENST00000382538.10:p.Glu434Ter
	ENST00000401874.7:c.1447G>T	ENST00000401874.7:p.Glu483Ter
	ENST00000439673.6:c.1336G>T	ENST00000439673.6:p.Glu446Ter
	ENST00000568454.6:c.1480G>T	ENST00000568454.6:p.Glu494Ter
	ENST00000642206.2:c.1492G>T	ENST00000642206.2:p.Glu498Ter
	ENST00000642365.2:c.1447G>T	ENST00000642365.2:p.Glu483Ter
	ENST00000642561.1:c.1447G>T	ENST00000642561.1:p.Glu483Ter
	ENST00000642797.1:c.1447G>T	ENST00000642797.1:p.Glu483Ter
	ENST00000642936.1:c.1447G>T	ENST00000642936.1:p.Glu483Ter
	ENST00000643088.1:c.1447G>T	ENST00000643088.1:p.Glu483Ter
	ENST00000643946.1:c.1447G>T	ENST00000643946.1:p.Glu483Ter
	ENST00000644043.1:c.1447G>T	ENST00000644043.1:p.Glu483Ter
	ENST00000644329.1:c.1447G>T	ENST00000644329.1:p.Glu483Ter
	ENST00000644335.1:c.1447G>T	ENST00000644335.1:p.Glu483Ter
	ENST00000645186.2:c.1447G>T	ENST00000645186.2:p.Glu483Ter
	ENST00000646388.1:c.1447G>T	ENST00000646388.1:p.Glu483Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

TSC2

Type	Database	ID	Link
Gene	MIM	191092	OMIM
	HGNC	12363	HGNC
	Ensembl	ENSG00000103197	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv284238978	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Tuberous sclerosis syndrome	germline	Detail
Pathogenic	2021-11-07	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	germline	Detail
Pathogenic	2015-12-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	TUBEROUS SCLEROSIS 2 (disorder)	NA	CLINVAR		Detail
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs397515297 dbSNP
Genome: hg38
Position: chr16:2,064,275-2,064,275
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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