chr1:201361988:C>A Detail (hg38) (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	chr1:201,331,116-201,331,116 View the variant detail on this assembly version.
hg38	chr1:201,361,988-201,361,988

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.614G>T	NP_001001430.1:p.Arg205Leu
	NM_001276346.1:c.515G>T	NP_001263275.1:p.Arg172Leu
	NM_001001431.2:c.602G>T	NP_001001431.1:p.Arg201Leu
	NM_001276347.1:c.614G>T	NP_001263276.1:p.Arg205Leu
Ensemble	ENST00000367318.10:c.614G>T	ENST00000367318.10:p.Arg205Leu
	ENST00000367320.6:c.515G>T	ENST00000367320.6:p.Arg172Leu
	ENST00000367322.6:c.602G>T	ENST00000367322.6:p.Arg201Leu
	ENST00000412633.3:c.605G>T	ENST00000412633.3:p.Arg202Leu
	ENST00000422165.6:c.635G>T	ENST00000422165.6:p.Arg212Leu
	ENST00000438742.6:c.593G>T	ENST00000438742.6:p.Arg198Leu
	ENST00000455702.7:c.629G>T	ENST00000455702.7:p.Arg210Leu
	ENST00000509001.5:c.614G>T	ENST00000509001.5:p.Arg205Leu
	ENST00000656932.1:c.644G>T	ENST00000656932.1:p.Arg215Leu
	ENST00000658476.1:c.614G>T	ENST00000658476.1:p.Arg205Leu
	ENST00000660295.1:c.614G>T	ENST00000660295.1:p.Arg205Leu
	ENST00000714312.1:c.437G>T	ENST00000714312.1:p.Arg146Leu
	ENST00000714313.1:c.482G>T	ENST00000714313.1:p.Arg161Leu
	ENST00000714314.1:c.644G>T	ENST00000714314.1:p.Arg215Leu
	ENST00000714316.2:c.611G>T	ENST00000714316.2:p.Arg204Leu
	ENST00000714317.1:c.437G>T	ENST00000714317.1:p.Arg146Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2004-11-16	no assertion criteria provided	dilated cardiomyopathy 1D	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	CARDIOMYOPATHY, DILATED, 1D (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) AND Dilated cardiomyopathy 1D	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: rs121964860 dbSNP
Genome: hg38
Position: chr1:201,361,988-201,361,988
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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