chr16:2088326:G> 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	chr16:2,138,327-2,138,327
hg38	chr16:2,088,326-2,088,326

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.5259+1delG
	NM_001114382.2:c.5190+1delG
	NM_001318829.1:c.4914+1delG
	NM_001077183.2:c.5058+1delG
	NM_001318827.1:c.4950+1delG
	NM_001318831.1:c.4950+1delG
	NM_001318832.1:c.5091+1delG
Ensemble	ENST00000219476.9:c.5259+1delG
	ENST00000350773.9:c.5190+1delG
	ENST00000382538.10:c.4914+1delG
	ENST00000401874.7:c.5058+1delG
	ENST00000439673.6:c.4950+1delG
	ENST00000568454.6:c.5091+1delG
	ENST00000642206.2:c.5106+1delG
	ENST00000642365.2:c.5256+1delG
	ENST00000642561.1:c.5118+1delG
	ENST00000642797.1:c.5061+1delG
	ENST00000642936.1:c.5127+1delG
	ENST00000643088.1:c.5052+1delG
	ENST00000643946.1:c.5184+1delG
	ENST00000644043.1:c.5130+1delG
	ENST00000644329.1:c.5145+1delG
	ENST00000644335.1:c.5055+1delG
	ENST00000645186.2:c.5349+1delG
	ENST00000646388.1:c.5253+1delG

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
not provided		no assertion provided	Tuberous sclerosis syndrome	germline	Detail
Pathogenic Likely pathogenic	2021-11-07	criteria provided, multiple submitters, no conflicts	tuberous sclerosis 2	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.5259+1del AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5259+1del AND Tuberous sclerosis 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs137854317 dbSNP
Genome: hg38
Position: chr16:2,088,326-2,088,326
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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