chr1:201332514:CTC> Detail (hg19) (TNNT2)

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

Information

Genome

Assembly	Position
hg19	chr1:201,332,514-201,332,516
hg38	chr1:201,363,386-201,363,388

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.478_480delGAG	NP_001001430.1:p.Glu163del
	NM_001276347.1:c.478_480delGAG	NP_001263276.1:p.Glu163del
	NM_001276346.1:c.388_390delGAG	NP_001263275.1:p.Glu133del
	NM_001001431.2:c.475_477delGAG	NP_001001431.1:p.Glu162del
Ensemble	ENST00000367318.10:c.478_480delGAG	ENST00000367318.10:p.Glu163del
	ENST00000509001.5:c.478_480delGAG	ENST00000509001.5:p.Glu163del
	ENST00000367320.6:c.388_390delGAG	ENST00000367320.6:p.Glu133del
	ENST00000367322.6:c.475_477delGAG	ENST00000367322.6:p.Glu162del
	ENST00000412633.3:c.478_480delGAG	ENST00000412633.3:p.Glu163del
	ENST00000455702.7:c.493_495delGAG	ENST00000455702.7:p.Glu168del
	ENST00000438742.6:c.460_462delGAG	ENST00000438742.6:p.Glu157del
	ENST00000422165.6:c.508_510delGAG	ENST00000422165.6:p.Glu173del
	ENST00000656932.1:c.508_510delGAG	ENST00000656932.1:p.Glu173del
	ENST00000658476.1:c.478_480delGAG	ENST00000658476.1:p.Glu163del
	ENST00000660295.1:c.478_480delGAG	ENST00000660295.1:p.Glu163del
	ENST00000714312.1:c.301_303delGAG	ENST00000714312.1:p.Glu104del
	ENST00000714313.1:c.346_348delGAG	ENST00000714313.1:p.Glu119del
	ENST00000714314.1:c.508_510delGAG	ENST00000714314.1:p.Glu173del
	ENST00000714316.2:c.478_480delGAG	ENST00000714316.2:p.Glu163del
	ENST00000714317.1:c.301_303delGAG	ENST00000714317.1:p.Glu104del

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

[No Data.]

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
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: rs397516470 dbSNP
Genome: hg19
Position: chr1:201,332,514-201,332,516
Variant Type: snv
Reference Allele: CTC
Alternative Allele: -

Genome browser

chr1:201332514:CTC> Detail (hg19) (TNNT2)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript