chr16:2125894:G>C 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	chr16:2,125,894-2,125,894
hg38	chr16:2,075,893-2,075,893 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001077183.2:c.2639+1G>C
	NM_001318832.1:c.2672+1G>C
	NM_000548.4:c.2639+1G>C
	NM_001114382.2:c.2639+1G>C
	NM_001318829.1:c.2492+1G>C
	NM_001318827.1:c.2528+1G>C
	NM_001318831.1:c.2528+1G>C
Ensemble	ENST00000642561.1:c.2639+1G>C
	ENST00000401874.7:c.2639+1G>C
	ENST00000643088.1:c.2639+1G>C
	ENST00000644329.1:c.2639+1G>C
	ENST00000568454.6:c.2672+1G>C
	ENST00000642206.2:c.2684+1G>C
	ENST00000644335.1:c.2639+1G>C
	ENST00000643946.1:c.2639+1G>C
	ENST00000642936.1:c.2639+1G>C
	ENST00000219476.9:c.2639+1G>C
	ENST00000645186.2:c.2639+1G>C
	ENST00000642797.1:c.2639+1G>C
	ENST00000350773.9:c.2639+1G>C
	ENST00000382538.10:c.2492+1G>C
	ENST00000644043.1:c.2639+1G>C
	ENST00000439673.6:c.2528+1G>C
	ENST00000642365.2:c.2639+1G>C
	ENST00000646388.1:c.2639+1G>C

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	2012-08-08	criteria provided, single submitter	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.2639+1G>C AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.2639+1G>C AND Tuberous sclerosis 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs45517252 dbSNP
Genome: hg19
Position: chr16:2,125,894-2,125,894
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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