chr1:201363348:C>T 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	chr1:201,332,476-201,332,476 View the variant detail on this assembly version.
hg38	chr1:201,363,348-201,363,348

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.518G>A	NP_001001430.1:p.Arg173Gln
	NM_001276346.1:c.428G>A	NP_001263275.1:p.Arg143Gln
	NM_001001431.2:c.515G>A	NP_001001431.1:p.Arg172Gln
	NM_001276347.1:c.518G>A	NP_001263276.1:p.Arg173Gln
Ensemble	ENST00000367318.10:c.518G>A	ENST00000367318.10:p.Arg173Gln
	ENST00000367320.6:c.428G>A	ENST00000367320.6:p.Arg143Gln
	ENST00000367322.6:c.515G>A	ENST00000367322.6:p.Arg172Gln
	ENST00000412633.3:c.518G>A	ENST00000412633.3:p.Arg173Gln
	ENST00000422165.6:c.548G>A	ENST00000422165.6:p.Arg183Gln
	ENST00000438742.6:c.500G>A	ENST00000438742.6:p.Arg167Gln
	ENST00000455702.7:c.533G>A	ENST00000455702.7:p.Arg178Gln
	ENST00000509001.5:c.518G>A	ENST00000509001.5:p.Arg173Gln
	ENST00000656932.1:c.548G>A	ENST00000656932.1:p.Arg183Gln
	ENST00000658476.1:c.518G>A	ENST00000658476.1:p.Arg173Gln
	ENST00000660295.1:c.518G>A	ENST00000660295.1:p.Arg173Gln
	ENST00000714312.1:c.341G>A	ENST00000714312.1:p.Arg114Gln
	ENST00000714313.1:c.386G>A	ENST00000714313.1:p.Arg129Gln
	ENST00000714314.1:c.548G>A	ENST00000714314.1:p.Arg183Gln
	ENST00000714316.2:c.518G>A	ENST00000714316.2:p.Arg173Gln
	ENST00000714317.1:c.341G>A	ENST00000714317.1:p.Arg114Gln

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	COSM6805430	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2018-10-10	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic Likely pathogenic	2021-12-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	dilated cardiomyopathy 1D	germline	Detail
Pathogenic	2018-09-19	criteria provided, single submitter		germline	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	hypertrophic cardiomyopathy 2	germline	Detail
Likely pathogenic	2023-04-11	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3	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.548G>A (p.Arg183Gln) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND Cardiovascular phenotype	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) 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: rs397516471 dbSNP
Genome: hg38
Position: chr1:201,363,348-201,363,348
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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