chr1:201359622:C>A Detail (hg38) (TNNT2)

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

Information

Genome

Assembly	Position
hg19	chr1:201,328,750-201,328,750 View the variant detail on this assembly version.
hg38	chr1:201,359,622-201,359,622

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.821+1G>T
	NM_001276346.1:c.722+1G>T
	NM_001001431.2:c.809+1G>T
	NM_001276347.1:c.821+1G>T
Ensemble	ENST00000367318.10:c.821+1G>T
	ENST00000367320.6:c.722+1G>T
	ENST00000367322.6:c.809+1G>T
	ENST00000412633.3:c.812+1G>T
	ENST00000422165.6:c.842+1G>T
	ENST00000438742.6:c.800+1G>T
	ENST00000455702.7:c.836+1G>T
	ENST00000509001.5:c.821+1G>T
	ENST00000656932.1:c.851+1G>T
	ENST00000658476.1:c.886+1G>T
	ENST00000660295.1:c.821+1G>T
	ENST00000714312.1:c.644+1G>T
	ENST00000714313.1:c.689+1G>T
	ENST00000714314.1:c.851+1G>T
	ENST00000714316.2:c.*9+1G>T
	ENST00000714317.1:c.644+1G>T

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	2015-12-04	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2023-10-04	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	germline	Detail
Pathogenic	2023-10-04	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	germline	Detail
Pathogenic	2023-10-04	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,dilated cardiomyopathy 1D,hypertrophic cardiomyopathy 2	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	dilated cardiomyopathy 1D	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, Familial Hypertrophic, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001276345.2(TNNT2):c.851+1G>T AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.851+1G>T AND Cardiomyopathy, familial restrictive, 3	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs111377893 dbSNP
Genome: hg38
Position: chr1:201,359,622-201,359,622
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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