chr1:201334755:C>T 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	chr1:201,334,755-201,334,755
hg38	chr1:201,365,627-201,365,627 View the variant detail on this assembly version.

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.247G>A	NP_001001430.1:p.Glu83Lys
	NM_001001431.2:c.244G>A	NP_001001431.1:p.Glu82Lys
	NM_001276346.1:c.274G>A	NP_001263275.1:p.Glu92Lys
	NM_001276347.1:c.247G>A	NP_001263276.1:p.Glu83Lys
Ensemble	ENST00000714312.1:c.70G>A	ENST00000714312.1:p.Glu24Lys
	ENST00000714313.1:c.232G>A	ENST00000714313.1:p.Glu78Lys
	ENST00000714314.1:c.277G>A	ENST00000714314.1:p.Glu93Lys
	ENST00000438742.6:c.229G>A	ENST00000438742.6:p.Glu77Lys
	ENST00000367318.10:c.247G>A	ENST00000367318.10:p.Glu83Lys
	ENST00000714316.2:c.247G>A	ENST00000714316.2:p.Glu83Lys
	ENST00000656932.1:c.277G>A	ENST00000656932.1:p.Glu93Lys
	ENST00000455702.7:c.262G>A	ENST00000455702.7:p.Glu88Lys
	ENST00000714317.1:c.70G>A	ENST00000714317.1:p.Glu24Lys
	ENST00000660295.1:c.247G>A	ENST00000660295.1:p.Glu83Lys
	ENST00000412633.3:c.247G>A	ENST00000412633.3:p.Glu83Lys
	ENST00000367322.6:c.244G>A	ENST00000367322.6:p.Glu82Lys
	ENST00000658476.1:c.247G>A	ENST00000658476.1:p.Glu83Lys
	ENST00000367320.6:c.274G>A	ENST00000367320.6:p.Glu92Lys
	ENST00000422165.6:c.277G>A	ENST00000422165.6:p.Glu93Lys
	ENST00000509001.5:c.247G>A	ENST00000509001.5:p.Glu83Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2014-10-29	no assertion criteria provided	not specified	germline	Detail
Likely pathogenic	2023-01-25	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-03-22	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2023-03-22	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2023-03-22	criteria provided, single submitter	hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D,Cardiomyopathy, familial restrictive, 3	germline	Detail
Uncertain significance	2021-06-16	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2023-12-08	criteria provided, single submitter		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.277G>A (p.Glu93Lys) AND not specified	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND Cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) AND Cardiovascular phenotype	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: rs727504244 dbSNP
Genome: hg19
Position: chr1:201,334,755-201,334,755
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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