chr19:55665403:C>T Detail (hg19) (TNNI3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr19:55,665,403-55,665,403
hg38	chr19:55,154,035-55,154,035 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.544G>A	NP_000354.4:p.Glu182Lys
Ensemble	ENST00000344887.10:c.544G>A	ENST00000344887.10:p.Glu182Lys
	ENST00000588882.1:c.469G>A	ENST00000588882.1:p.Glu157Lys
	ENST00000665070.1:c.577G>A	ENST00000665070.1:p.Glu193Lys
	ENST00000714236.1:c.502G>A	ENST00000714236.1:p.Glu168Lys
	ENST00000714237.1:c.460G>A	ENST00000714237.1:p.Glu154Lys
	ENST00000714238.1:c.532G>A	ENST00000714238.1:p.Glu178Lys
	ENST00000714240.1:c.337G>A	ENST00000714240.1:p.Glu113Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

TNNI3

Type	Database	ID	Link
Gene	MIM	191044	OMIM
	HGNC	11947	HGNC
	Ensembl	ENSG00000129991	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
Pathogenic	2014-09-10	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2012-10-25	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2018-12-12	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2021-08-02	criteria provided, single submitter	dilated cardiomyopathy 1FF	de novo	Detail
Pathogenic	2022-01-05	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Cardiomyopathy, Dilated, 1FF	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND not provided	ClinVar	Detail
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND Cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND Dilated cardiomyopathy 1FF	ClinVar	Detail
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND Hypertrophic cardiomyopathy	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: rs397516355 dbSNP
Genome: hg19
Position: chr19:55,665,403-55,665,403
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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