chr1:201334413:TCC> Detail (hg19) (TNNT2)

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

Genome

Assembly	Position
hg19	chr1:201,334,413-201,334,415
hg38	chr1:201,365,285-201,365,287

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.285_287delGGA	NP_001001430.1:p.Glu96del
	NM_001001431.2:c.282_284delGGA	NP_001001431.1:p.Glu95del
	NM_001276346.1:c.291+323_291+325delGGA
	NM_001276347.1:c.285_287delGGA	NP_001263276.1:p.Glu96del
Ensemble	ENST00000367318.10:c.285_287delGGA	ENST00000367318.10:p.Glu96del
	ENST00000438742.6:c.267_269delGGA	ENST00000438742.6:p.Glu90del
	ENST00000714316.2:c.285_287delGGA	ENST00000714316.2:p.Glu96del
	ENST00000714312.1:c.108_110delGGA	ENST00000714312.1:p.Glu37del
	ENST00000714314.1:c.315_317delGGA	ENST00000714314.1:p.Glu106del
	ENST00000714313.1:c.249+323_249+325delGGA
	ENST00000367322.6:c.282_284delGGA	ENST00000367322.6:p.Glu95del
	ENST00000658476.1:c.285_287delGGA	ENST00000658476.1:p.Glu96del
	ENST00000367320.6:c.291+323_291+325delGGA
	ENST00000509001.5:c.285_287delGGA	ENST00000509001.5:p.Glu96del
	ENST00000422165.6:c.315_317delGGA	ENST00000422165.6:p.Glu106del
	ENST00000656932.1:c.315_317delGGA	ENST00000656932.1:p.Glu106del
	ENST00000660295.1:c.285_287delGGA	ENST00000660295.1:p.Glu96del
	ENST00000455702.7:c.300_302delGGA	ENST00000455702.7:p.Glu101del
	ENST00000714317.1:c.108_110delGGA	ENST00000714317.1:p.Glu37del
	ENST00000412633.3:c.285_287delGGA	ENST00000412633.3:p.Glu96del

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

TNNT2

Type	Database	ID	Link
Gene	MIM	191045	OMIM
	HGNC	11949	HGNC
	Ensembl	ENSG00000118194	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
Likely pathogenic	2008-03-01	no assertion criteria provided	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2008-01-25	no assertion criteria provided	Cardiomyopathy, familial restrictive, 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Cardiomyopathy, Familial Hypertrophic, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) AND Cardiomyopathy, familial restrictive, 3	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: rs727504277 dbSNP
Genome: hg19
Position: chr1:201,334,413-201,334,415
Variant Type: snv
Reference Allele: TCC
Alternative Allele: -

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