chr19:55663280:G>C 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	chr19:55,663,280-55,663,280
hg38	chr19:55,151,912-55,151,912 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.555C>G	NP_000354.4:p.Asn185Lys
Ensemble	ENST00000344887.10:c.555C>G	ENST00000344887.10:p.Asn185Lys
	ENST00000588882.1:c.480C>G	ENST00000588882.1:p.Asn160Lys
	ENST00000665070.1:c.588C>G	ENST00000665070.1:p.Asn196Lys
	ENST00000714236.1:c.513C>G	ENST00000714236.1:p.Asn171Lys
	ENST00000714237.1:c.471C>G	ENST00000714237.1:p.Asn157Lys
	ENST00000714238.1:c.543C>G	ENST00000714238.1:p.Asn181Lys
	ENST00000714240.1:c.348C>G	ENST00000714240.1:p.Asn116Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2009-08-14	no assertion criteria provided	dilated cardiomyopathy 1FF	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	Cardiomyopathy, Familial Idiopathic	We report 2 novel TNNI3 missense mutations, Lys36Gln and Asn185Lys, each associa...	BeFree	19590045	Detail
0.360	Cardiomyopathy, Dilated, 1FF	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys) AND Dilated cardiomyopathy 1FF	ClinVar	Detail
We report 2 novel TNNI3 missense mutations, Lys36Gln and Asn185Lys, each associated with severe and ...	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: -
dbSNP: rs267607129 dbSNP
Genome: hg19
Position: chr19:55,663,280-55,663,280
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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