chr1:201365617:T>G 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	chr1:201,334,745-201,334,745 View the variant detail on this assembly version.
hg38	chr1:201,365,617-201,365,617

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.257A>C	NP_001001430.1:p.Asp86Ala
	NM_001276346.1:c.284A>C	NP_001263275.1:p.Asp95Ala
	NM_001001431.2:c.254A>C	NP_001001431.1:p.Asp85Ala
	NM_001276347.1:c.257A>C	NP_001263276.1:p.Asp86Ala
Ensemble	ENST00000367318.10:c.257A>C	ENST00000367318.10:p.Asp86Ala
	ENST00000367320.6:c.284A>C	ENST00000367320.6:p.Asp95Ala
	ENST00000367322.6:c.254A>C	ENST00000367322.6:p.Asp85Ala
	ENST00000412633.3:c.257A>C	ENST00000412633.3:p.Asp86Ala
	ENST00000422165.6:c.287A>C	ENST00000422165.6:p.Asp96Ala
	ENST00000438742.6:c.239A>C	ENST00000438742.6:p.Asp80Ala
	ENST00000455702.7:c.272A>C	ENST00000455702.7:p.Asp91Ala
	ENST00000509001.5:c.257A>C	ENST00000509001.5:p.Asp86Ala
	ENST00000656932.1:c.287A>C	ENST00000656932.1:p.Asp96Ala
	ENST00000658476.1:c.257A>C	ENST00000658476.1:p.Asp86Ala
	ENST00000660295.1:c.257A>C	ENST00000660295.1:p.Asp86Ala
	ENST00000714312.1:c.80A>C	ENST00000714312.1:p.Asp27Ala
	ENST00000714313.1:c.242A>C	ENST00000714313.1:p.Asp81Ala
	ENST00000714314.1:c.287A>C	ENST00000714314.1:p.Asp96Ala
	ENST00000714316.2:c.257A>C	ENST00000714316.2:p.Asp86Ala
	ENST00000714317.1:c.80A>C	ENST00000714317.1:p.Asp27Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
Likely pathogenic	2014-11-14	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2023-03-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-01-05	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	germline unknown	Detail
Pathogenic Likely pathogenic	2024-01-05	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	germline unknown	Detail
Pathogenic Likely pathogenic	2024-01-05	criteria provided, multiple submitters, no conflicts	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	germline unknown	Detail
Likely pathogenic	2024-02-06	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	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.287A>C (p.Asp96Ala) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND not provided	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND Cardiovascular phenotype	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND Hypertrophic cardiomyopathy 2	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) AND Dilated cardiomyopathy 1D	ClinVar	Detail
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) 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: rs397516455 dbSNP
Genome: hg38
Position: chr1:201,365,617-201,365,617
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8612
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117696
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.496465470364328E-6

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