chr16:2085302:C> Detail (hg38) (TSC2)

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

Information

Genome

Assembly	Position
hg19	chr16:2,135,303-2,135,303
hg38	chr16:2,085,302-2,085,302

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4642delC	NP_000539.2:p.Leu1548CysfsTer28
	NM_001114382.2:c.4573delC	NP_001107854.1:p.Leu1525CysfsTer28
	NM_001318829.1:c.4297delC	NP_001305758.1:p.Leu1433CysfsTer28
	NM_001077183.2:c.4441delC	NP_001070651.1:p.Leu1481CysfsTer28
	NM_001318827.1:c.4333delC	NP_001305756.1:p.Leu1445CysfsTer28
	NM_001318831.1:c.4333delC	NP_001305760.1:p.Leu1445CysfsTer28
	NM_001318832.1:c.4474delC	NP_001305761.1:p.Leu1492CysfsTer28
Ensemble	ENST00000219476.9:c.4642delC	ENST00000219476.9:p.Leu1548CysfsTer28
	ENST00000350773.9:c.4573delC	ENST00000350773.9:p.Leu1525CysfsTer28
	ENST00000382538.10:c.4297delC	ENST00000382538.10:p.Leu1433CysfsTer28
	ENST00000401874.7:c.4441delC	ENST00000401874.7:p.Leu1481CysfsTer28
	ENST00000439673.6:c.4333delC	ENST00000439673.6:p.Leu1445CysfsTer28
	ENST00000568454.6:c.4474delC	ENST00000568454.6:p.Leu1492CysfsTer28
	ENST00000642206.2:c.4489delC	ENST00000642206.2:p.Leu1497CysfsTer28
	ENST00000642365.2:c.4639delC	ENST00000642365.2:p.Leu1547CysfsTer28
	ENST00000642561.1:c.4513delC	ENST00000642561.1:p.Leu1505CysfsTer28
	ENST00000642797.1:c.4444delC	ENST00000642797.1:p.Leu1482CysfsTer28
	ENST00000642936.1:c.4510delC	ENST00000642936.1:p.Leu1504CysfsTer28
	ENST00000643088.1:c.4435delC	ENST00000643088.1:p.Leu1479CysfsTer28
	ENST00000643946.1:c.4567delC	ENST00000643946.1:p.Leu1523CysfsTer28
	ENST00000644043.1:c.4513delC	ENST00000644043.1:p.Leu1505CysfsTer28
	ENST00000644329.1:c.4441delC	ENST00000644329.1:p.Leu1481CysfsTer28
	ENST00000644335.1:c.4438delC	ENST00000644335.1:p.Leu1480CysfsTer28
	ENST00000645186.2:c.4732delC	ENST00000645186.2:p.Leu1578CysfsTer28
	ENST00000646388.1:c.4636delC	ENST00000646388.1:p.Leu1546CysfsTer28

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-12-01	no assertion criteria provided	tuberous sclerosis 2	germline	Detail
not provided		no assertion provided	Tuberous sclerosis 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.4642del (p.Leu1548fs) AND Tuberous sclerosis 2	ClinVar	Detail
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) AND Tuberous sclerosis 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: rs137854083 dbSNP
Genome: hg38
Position: chr16:2,085,302-2,085,302
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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