chr19:55663219:T>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	chr19:55,663,219-55,663,219
hg38	chr19:55,151,851-55,151,851 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.616A>G	NP_000354.4:p.Lys206Glu
Ensemble	ENST00000588882.1:c.541A>G	ENST00000588882.1:p.Lys181Glu
	ENST00000344887.10:c.616A>G	ENST00000344887.10:p.Lys206Glu
	ENST00000665070.1:c.649A>G	ENST00000665070.1:p.Lys217Glu
	ENST00000714236.1:c.574A>G	ENST00000714236.1:p.Lys192Glu
	ENST00000714237.1:c.532A>G	ENST00000714237.1:p.Lys178Glu
	ENST00000714238.1:c.604A>G	ENST00000714238.1:p.Lys202Glu
	ENST00000714240.1:c.409A>G	ENST00000714240.1:p.Lys137Glu

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

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	2013-06-28	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.257	Cardiomyopathy, Hypertrophic, Familial	Purified recombinant wild-type cTnI and three of its fHCM-related missense mutan...	BeFree	14575308	Detail
0.254	Cardiomyopathies	Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206G...	BeFree	9241277	Detail
0.002	Cardiomyopathy, Hypertrophic, Familial	We have studied the influence of phosphorylation of human wild-type cTnI and of ...	BeFree	14596793	Detail
0.257	Cardiomyopathy, Hypertrophic, Familial	Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial h...	BeFree	14596793	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu) AND not provided	ClinVar	Detail
Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and...	DisGeNET	Detail
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occu...	DisGeNET	Detail
We have studied the influence of phosphorylation of human wild-type cTnI and of two mutant cTnI (G20...	DisGeNET	Detail
Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomy...	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: rs104894725 dbSNP
Genome: hg19
Position: chr19:55,663,219-55,663,219
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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