chr16:2136817:TT> Detail (hg19) (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	chr16:2,136,817-2,136,818
hg38	chr16:2,086,816-2,086,817

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4934_4935delTT	NP_000539.2:p.Phe1645CysfsTer7
	NM_001077183.2:c.4733_4734delTT	NP_001070651.1:p.Phe1578CysfsTer7
	NM_001318832.1:c.4766_4767delTT	NP_001305761.1:p.Phe1589CysfsTer7
	NM_001318827.1:c.4625_4626delTT	NP_001305756.1:p.Phe1542CysfsTer7
	NM_001318831.1:c.4625_4626delTT	NP_001305760.1:p.Phe1542CysfsTer7
	NM_001114382.2:c.4865_4866delTT	NP_001107854.1:p.Phe1622CysfsTer7
	NM_001318829.1:c.4589_4590delTT	NP_001305758.1:p.Phe1530CysfsTer7
Ensemble	ENST00000642936.1:c.4802_4803delTT	ENST00000642936.1:p.Phe1601CysfsTer7
	ENST00000219476.9:c.4934_4935delTT	ENST00000219476.9:p.Phe1645CysfsTer7
	ENST00000645186.2:c.5024_5025delTT	ENST00000645186.2:p.Phe1675CysfsTer7
	ENST00000643088.1:c.4727_4728delTT	ENST00000643088.1:p.Phe1576CysfsTer7
	ENST00000401874.7:c.4733_4734delTT	ENST00000401874.7:p.Phe1578CysfsTer7
	ENST00000642561.1:c.4805_4806delTT	ENST00000642561.1:p.Phe1602CysfsTer7
	ENST00000644329.1:c.4733_4734delTT	ENST00000644329.1:p.Phe1578CysfsTer7
	ENST00000568454.6:c.4766_4767delTT	ENST00000568454.6:p.Phe1589CysfsTer7
	ENST00000644335.1:c.4730_4731delTT	ENST00000644335.1:p.Phe1577CysfsTer7
	ENST00000642206.2:c.4781_4782delTT	ENST00000642206.2:p.Phe1594CysfsTer7
	ENST00000643946.1:c.4859_4860delTT	ENST00000643946.1:p.Phe1620CysfsTer7
	ENST00000439673.6:c.4625_4626delTT	ENST00000439673.6:p.Phe1542CysfsTer7
	ENST00000642365.2:c.4931_4932delTT	ENST00000642365.2:p.Phe1644CysfsTer7
	ENST00000646388.1:c.4928_4929delTT	ENST00000646388.1:p.Phe1643CysfsTer7
	ENST00000642797.1:c.4736_4737delTT	ENST00000642797.1:p.Phe1579CysfsTer7
	ENST00000350773.9:c.4865_4866delTT	ENST00000350773.9:p.Phe1622CysfsTer7
	ENST00000382538.10:c.4589_4590delTT	ENST00000382538.10:p.Phe1530CysfsTer7
	ENST00000644043.1:c.4805_4806delTT	ENST00000644043.1:p.Phe1602CysfsTer7

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
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

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.4934_4935del (p.Phe1645fs) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) AND Tuberous sclerosis 2	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: rs137854141 dbSNP
Genome: hg19
Position: chr16:2,136,817-2,136,818
Variant Type: snv
Reference Allele: TT
Alternative Allele: -

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