chr1:201328765:G>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	chr1:201,328,765-201,328,765
hg38	chr1:201,359,637-201,359,637 View the variant detail on this assembly version.

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.807C>A	NP_001001430.1:p.Asn269Lys
	NM_001276347.1:c.807C>A	NP_001263276.1:p.Asn269Lys
	NM_001001431.2:c.795C>A	NP_001001431.1:p.Asn265Lys
	NM_001276346.1:c.708C>A	NP_001263275.1:p.Asn236Lys
Ensemble	ENST00000714316.2:c.784C>A	ENST00000714316.2:p.Arg262=
	ENST00000438742.6:c.786C>A	ENST00000438742.6:p.Asn262Lys
	ENST00000367318.10:c.807C>A	ENST00000367318.10:p.Asn269Lys
	ENST00000714313.1:c.675C>A	ENST00000714313.1:p.Asn225Lys
	ENST00000714314.1:c.837C>A	ENST00000714314.1:p.Asn279Lys
	ENST00000714312.1:c.630C>A	ENST00000714312.1:p.Asn210Lys
	ENST00000422165.6:c.828C>A	ENST00000422165.6:p.Asn276Lys
	ENST00000509001.5:c.807C>A	ENST00000509001.5:p.Asn269Lys
	ENST00000367322.6:c.795C>A	ENST00000367322.6:p.Asn265Lys
	ENST00000658476.1:c.872C>A	ENST00000658476.1:p.Thr291Lys
	ENST00000367320.6:c.708C>A	ENST00000367320.6:p.Asn236Lys
	ENST00000412633.3:c.798C>A	ENST00000412633.3:p.Asn266Lys
	ENST00000656932.1:c.837C>A	ENST00000656932.1:p.Asn279Lys
	ENST00000455702.7:c.822C>A	ENST00000455702.7:p.Asn274Lys
	ENST00000714317.1:c.630C>A	ENST00000714317.1:p.Asn210Lys
	ENST00000660295.1:c.807C>A	ENST00000660295.1:p.Asn269Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2013-02-13	no assertion criteria provided	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2021-08-12	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.837C>A (p.Asn279Lys) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) 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: rs376923877 dbSNP
Genome: hg19
Position: chr1:201,328,765-201,328,765
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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