chr19:55663261:G>A 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	chr19:55,663,261-55,663,261
hg38	chr19:55,151,893-55,151,893 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.574C>T	NP_000354.4:p.Arg192Cys
Ensemble	ENST00000344887.10:c.574C>T	ENST00000344887.10:p.Arg192Cys
	ENST00000588882.1:c.499C>T	ENST00000588882.1:p.Arg167Cys
	ENST00000665070.1:c.607C>T	ENST00000665070.1:p.Arg203Cys
	ENST00000714236.1:c.532C>T	ENST00000714236.1:p.Arg178Cys
	ENST00000714237.1:c.490C>T	ENST00000714237.1:p.Arg164Cys
	ENST00000714238.1:c.562C>T	ENST00000714238.1:p.Arg188Cys
	ENST00000714240.1:c.367C>T	ENST00000714240.1:p.Arg123Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM1001399	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-02-09	criteria provided, single submitter	restrictive cardiomyopathy	germline	Detail
Pathogenic	2022-03-09	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2022-10-27	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2021-03-30	criteria provided, single submitter	dilated cardiomyopathy 2A,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF,Cardiomyopathy, familial restrictive, 1	germline	Detail
Likely pathogenic	2021-03-30	criteria provided, single submitter	dilated cardiomyopathy 2A,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF,Cardiomyopathy, familial restrictive, 1	germline	Detail
Likely pathogenic	2021-03-30	criteria provided, single submitter	dilated cardiomyopathy 2A,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF,Cardiomyopathy, familial restrictive, 1	germline	Detail
Likely pathogenic	2021-03-30	criteria provided, single submitter	dilated cardiomyopathy 2A,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF,Cardiomyopathy, familial restrictive, 1	germline	Detail
Pathogenic	2023-04-01	no assertion criteria provided	hypertrophic cardiomyopathy 7	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND Restrictive cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND not provided	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND Hypertrophic cardiomyopathy 7	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: rs727503499 dbSNP
Genome: hg19
Position: chr19:55,663,261-55,663,261
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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