chr1:201359636: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	chr1:201,328,764-201,328,764 View the variant detail on this assembly version.
hg38	chr1:201,359,636-201,359,636

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.808G>T	NP_001001430.1:p.Asp270Tyr
	NM_001276346.1:c.709G>T	NP_001263275.1:p.Asp237Tyr
	NM_001001431.2:c.796G>T	NP_001001431.1:p.Asp266Tyr
	NM_001276347.1:c.808G>T	NP_001263276.1:p.Asp270Tyr
Ensemble	ENST00000367318.10:c.808G>T	ENST00000367318.10:p.Asp270Tyr
	ENST00000367320.6:c.709G>T	ENST00000367320.6:p.Asp237Tyr
	ENST00000367322.6:c.796G>T	ENST00000367322.6:p.Asp266Tyr
	ENST00000412633.3:c.799G>T	ENST00000412633.3:p.Asp267Tyr
	ENST00000422165.6:c.829G>T	ENST00000422165.6:p.Asp277Tyr
	ENST00000438742.6:c.787G>T	ENST00000438742.6:p.Asp263Tyr
	ENST00000455702.7:c.823G>T	ENST00000455702.7:p.Asp275Tyr
	ENST00000509001.5:c.808G>T	ENST00000509001.5:p.Asp270Tyr
	ENST00000656932.1:c.838G>T	ENST00000656932.1:p.Asp280Tyr
	ENST00000658476.1:c.873G>T	ENST00000658476.1:p.Thr291=
	ENST00000660295.1:c.808G>T	ENST00000660295.1:p.Asp270Tyr
	ENST00000714312.1:c.631G>T	ENST00000714312.1:p.Asp211Tyr
	ENST00000714313.1:c.676G>T	ENST00000714313.1:p.Asp226Tyr
	ENST00000714314.1:c.838G>T	ENST00000714314.1:p.Asp280Tyr
	ENST00000714316.2:c.785G>T	ENST00000714316.2:p.Arg262Leu
	ENST00000714317.1:c.631G>T	ENST00000714317.1:p.Asp211Tyr

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	Uncertain significance
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	2017-03-16	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	germline	Detail
Uncertain significance	2017-03-16	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	germline	Detail
Uncertain significance	2017-03-16	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 3,hypertrophic cardiomyopathy 2,dilated cardiomyopathy 1D	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.838G>T (p.Asp280Tyr) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr) AND multiple conditions	ClinVar	Detail
NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr) AND multiple conditions	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: rs121964861 dbSNP
Genome: hg38
Position: chr1:201,359,636-201,359,636
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 4242
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): 58244
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): 1.7169150470434724E-5

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