chr16:2136373:CAT> Detail (hg19) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,136,373-2,136,375
hg38	chr16:2,086,372-2,086,374

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4842_4844delCAT	NP_000539.2:p.Ile1614del
	NM_001077183.2:c.4641_4643delCAT	NP_001070651.1:p.Ile1547del
	NM_001318832.1:c.4674_4676delCAT	NP_001305761.1:p.Ile1558del
	NM_001318827.1:c.4533_4535delCAT	NP_001305756.1:p.Ile1511del
	NM_001318831.1:c.4533_4535delCAT	NP_001305760.1:p.Ile1511del
	NM_001114382.2:c.4773_4775delCAT	NP_001107854.1:p.Ile1591del
	NM_001318829.1:c.4497_4499delCAT	NP_001305758.1:p.Ile1499del
Ensemble	ENST00000642936.1:c.4710_4712delCAT	ENST00000642936.1:p.Ile1570del
	ENST00000219476.9:c.4842_4844delCAT	ENST00000219476.9:p.Ile1614del
	ENST00000645186.2:c.4932_4934delCAT	ENST00000645186.2:p.Ile1644del
	ENST00000644329.1:c.4641_4643delCAT	ENST00000644329.1:p.Ile1547del
	ENST00000643088.1:c.4635_4637delCAT	ENST00000643088.1:p.Ile1545del
	ENST00000401874.7:c.4641_4643delCAT	ENST00000401874.7:p.Ile1547del
	ENST00000642561.1:c.4713_4715delCAT	ENST00000642561.1:p.Ile1571del
	ENST00000568454.6:c.4674_4676delCAT	ENST00000568454.6:p.Ile1558del
	ENST00000643946.1:c.4767_4769delCAT	ENST00000643946.1:p.Ile1589del
	ENST00000644335.1:c.4638_4640delCAT	ENST00000644335.1:p.Ile1546del
	ENST00000642206.2:c.4689_4691delCAT	ENST00000642206.2:p.Ile1563del
	ENST00000439673.6:c.4533_4535delCAT	ENST00000439673.6:p.Ile1511del
	ENST00000642365.2:c.4839_4841delCAT	ENST00000642365.2:p.Ile1613del
	ENST00000646388.1:c.4836_4838delCAT	ENST00000646388.1:p.Ile1612del
	ENST00000642797.1:c.4644_4646delCAT	ENST00000642797.1:p.Ile1548del
	ENST00000350773.9:c.4773_4775delCAT	ENST00000350773.9:p.Ile1591del
	ENST00000644043.1:c.4713_4715delCAT	ENST00000644043.1:p.Ile1571del
	ENST00000382538.10:c.4497_4499delCAT	ENST00000382538.10:p.Ile1499del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs137854331 dbSNP
Genome: hg19
Position: chr16:2,136,373-2,136,375
Variant Type: snv
Reference Allele: CAT
Alternative Allele: -

Genome browser