chr16:2088294:G>T 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	chr16:2,138,295-2,138,295 View the variant detail on this assembly version.
hg38	chr16:2,088,294-2,088,294

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.5228G>T	NP_000539.2:p.Arg1743Leu
	NM_001114382.2:c.5159G>T	NP_001107854.1:p.Arg1720Leu
	NM_001318829.1:c.4883G>T	NP_001305758.1:p.Arg1628Leu
	NM_001077183.2:c.5027G>T	NP_001070651.1:p.Arg1676Leu
	NM_001318827.1:c.4919G>T	NP_001305756.1:p.Arg1640Leu
	NM_001318831.1:c.4919G>T	NP_001305760.1:p.Arg1640Leu
	NM_001318832.1:c.5060G>T	NP_001305761.1:p.Arg1687Leu
Ensemble	ENST00000219476.9:c.5228G>T	ENST00000219476.9:p.Arg1743Leu
	ENST00000350773.9:c.5159G>T	ENST00000350773.9:p.Arg1720Leu
	ENST00000382538.10:c.4883G>T	ENST00000382538.10:p.Arg1628Leu
	ENST00000401874.7:c.5027G>T	ENST00000401874.7:p.Arg1676Leu
	ENST00000439673.6:c.4919G>T	ENST00000439673.6:p.Arg1640Leu
	ENST00000568454.6:c.5060G>T	ENST00000568454.6:p.Arg1687Leu
	ENST00000642206.2:c.5075G>T	ENST00000642206.2:p.Arg1692Leu
	ENST00000642365.2:c.5225G>T	ENST00000642365.2:p.Arg1742Leu
	ENST00000642561.1:c.5087G>T	ENST00000642561.1:p.Arg1696Leu
	ENST00000642797.1:c.5030G>T	ENST00000642797.1:p.Arg1677Leu
	ENST00000642936.1:c.5096G>T	ENST00000642936.1:p.Arg1699Leu
	ENST00000643088.1:c.5021G>T	ENST00000643088.1:p.Arg1674Leu
	ENST00000643946.1:c.5153G>T	ENST00000643946.1:p.Arg1718Leu
	ENST00000644043.1:c.5099G>T	ENST00000644043.1:p.Arg1700Leu
	ENST00000644329.1:c.5114G>T	ENST00000644329.1:p.Arg1705Leu
	ENST00000644335.1:c.5024G>T	ENST00000644335.1:p.Arg1675Leu
	ENST00000645186.2:c.5318G>T	ENST00000645186.2:p.Arg1773Leu
	ENST00000646388.1:c.5222G>T	ENST00000646388.1:p.Arg1741Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2023-08-25	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.5228G>T (p.Arg1743Leu) AND Tuberous sclerosis syndrome	ClinVar	Detail
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) 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: rs45507199 dbSNP
Genome: hg38
Position: chr16:2,088,294-2,088,294
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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