chr1:201328348:C>A 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	chr1:201,328,348-201,328,348
hg38	chr1:201,359,220-201,359,220 View the variant detail on this assembly version.

HGVS

TNNT2

Type	Transcript	Protein
RefSeq	NM_001001430.2:c.857G>T	NP_001001430.1:p.Arg286Leu
	NM_001276347.1:c.857G>T	NP_001263276.1:p.Arg286Leu
	NM_001001431.2:c.845G>T	NP_001001431.1:p.Arg282Leu
	NM_001276346.1:c.758G>T	NP_001263275.1:p.Arg253Leu
Ensemble	ENST00000714316.2:c.*45G>T
	ENST00000367318.10:c.857G>T	ENST00000367318.10:p.Arg286Leu
	ENST00000438742.6:c.836G>T	ENST00000438742.6:p.Arg279Leu
	ENST00000714314.1:c.887G>T	ENST00000714314.1:p.Arg296Leu
	ENST00000714313.1:c.725G>T	ENST00000714313.1:p.Arg242Leu
	ENST00000714312.1:c.680G>T	ENST00000714312.1:p.Arg227Leu
	ENST00000509001.5:c.857G>T	ENST00000509001.5:p.Arg286Leu
	ENST00000422165.6:c.878G>T	ENST00000422165.6:p.Arg293Leu
	ENST00000658476.1:c.922G>T	ENST00000658476.1:p.Ala308Ser
	ENST00000367322.6:c.845G>T	ENST00000367322.6:p.Arg282Leu
	ENST00000367320.6:c.758G>T	ENST00000367320.6:p.Arg253Leu
	ENST00000412633.3:c.848G>T	ENST00000412633.3:p.Arg283Leu
	ENST00000656932.1:c.887G>T	ENST00000656932.1:p.Arg296Leu
	ENST00000660295.1:c.857G>T	ENST00000660295.1:p.Arg286Leu
	ENST00000455702.7:c.872G>T	ENST00000455702.7:p.Arg291Leu
	ENST00000714317.1:c.680G>T	ENST00000714317.1:p.Arg227Leu

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
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.256	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail
0.440	Cardiomyopathy, Familial Hypertrophic, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: -
Genome: hg19
Position: chr1:201,328,348-201,328,348
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6392
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): 88810
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): 1.1259993244004054E-5

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