chr16:2138130:T>C Detail (hg19) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,138,130-2,138,130
hg38	chr16:2,088,129-2,088,129 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318827.1:c.4841T>C	NP_001305756.1:p.Leu1614Pro
	NM_001318831.1:c.4841T>C	NP_001305760.1:p.Leu1614Pro
	NM_001114382.2:c.5081T>C	NP_001107854.1:p.Leu1694Pro
	NM_001318829.1:c.4805T>C	NP_001305758.1:p.Leu1602Pro
	NM_000548.4:c.5150T>C	NP_000539.2:p.Leu1717Pro
	NM_001077183.2:c.4949T>C	NP_001070651.1:p.Leu1650Pro
	NM_001318832.1:c.4982T>C	NP_001305761.1:p.Leu1661Pro
Ensemble	ENST00000439673.6:c.4841T>C	ENST00000439673.6:p.Leu1614Pro
	ENST00000642365.2:c.5147T>C	ENST00000642365.2:p.Leu1716Pro
	ENST00000646388.1:c.5144T>C	ENST00000646388.1:p.Leu1715Pro
	ENST00000642797.1:c.4952T>C	ENST00000642797.1:p.Leu1651Pro
	ENST00000350773.9:c.5081T>C	ENST00000350773.9:p.Leu1694Pro
	ENST00000644043.1:c.5021T>C	ENST00000644043.1:p.Leu1674Pro
	ENST00000382538.10:c.4805T>C	ENST00000382538.10:p.Leu1602Pro
	ENST00000642936.1:c.5018T>C	ENST00000642936.1:p.Leu1673Pro
	ENST00000219476.9:c.5150T>C	ENST00000219476.9:p.Leu1717Pro
	ENST00000645186.2:c.5240T>C	ENST00000645186.2:p.Leu1747Pro
	ENST00000644329.1:c.4949T>C	ENST00000644329.1:p.Leu1650Pro
	ENST00000401874.7:c.4949T>C	ENST00000401874.7:p.Leu1650Pro
	ENST00000643088.1:c.4943T>C	ENST00000643088.1:p.Leu1648Pro
	ENST00000642561.1:c.5021T>C	ENST00000642561.1:p.Leu1674Pro
	ENST00000568454.6:c.4982T>C	ENST00000568454.6:p.Leu1661Pro
	ENST00000643946.1:c.5075T>C	ENST00000643946.1:p.Leu1692Pro
	ENST00000644335.1:c.4946T>C	ENST00000644335.1:p.Leu1649Pro
	ENST00000642206.2:c.4997T>C	ENST00000642206.2:p.Leu1666Pro

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	2021-11-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2021-11-07	criteria provided, single submitter	tuberous sclerosis 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) AND not provided	ClinVar	Detail
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) AND Tuberous sclerosis 2	ClinVar	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: rs45517398 dbSNP
Genome: hg19
Position: chr16:2,138,130-2,138,130
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser