chr19:55665514: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	chr19:55,665,514-55,665,514
hg38	chr19:55,154,146-55,154,146 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.433C>G	NP_000354.4:p.Arg145Gly
Ensemble	ENST00000588882.1:c.358C>G	ENST00000588882.1:p.Arg120Gly
	ENST00000344887.10:c.433C>G	ENST00000344887.10:p.Arg145Gly
	ENST00000665070.1:c.466C>G	ENST00000665070.1:p.Arg156Gly
	ENST00000714236.1:c.391C>G	ENST00000714236.1:p.Arg131Gly
	ENST00000714237.1:c.349C>G	ENST00000714237.1:p.Arg117Gly
	ENST00000714238.1:c.421C>G	ENST00000714238.1:p.Arg141Gly
	ENST00000714240.1:c.226C>G	ENST00000714240.1:p.Arg76Gly

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	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-05-06	criteria provided, single submitter	hypertrophic cardiomyopathy 7	germline	Detail
Pathogenic	2015-12-21	criteria provided, single submitter		germline	Detail
Pathogenic	2021-03-26	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-08-06	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2020-04-07	criteria provided, single submitter	cardiomyopathy	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
0.362	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	NA	CLINVAR		Detail
0.257	Cardiomyopathy, Hypertrophic, Familial	Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin ...	BeFree	24418317	Detail
0.041	hypertrophic cardiomyopathy	The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy ...	BeFree	12242271	Detail
0.257	Cardiomyopathy, Hypertrophic, Familial	We have analyzed the functional effects of two HCM mutations (R145G and R162W) u...	BeFree	10806205	Detail
0.254	Cardiomyopathies	Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206G...	BeFree	9241277	Detail
0.254	restrictive cardiomyopathy	Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mut...	BeFree	19651143	Detail
0.041	hypertrophic cardiomyopathy	Functional consequences of the human cardiac troponin I hypertrophic cardiomyopa...	BeFree	18430738	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) AND Hypertrophic cardiomyopathy 7	ClinVar	Detail
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) AND Cardiovascular phenotype	ClinVar	Detail
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) AND not provided	ClinVar	Detail
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) AND Cardiomyopathy	ClinVar	Detail
Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and...	DisGeNET	Detail
NA	DisGeNET	Detail
Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-...	DisGeNET	Detail
The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mut...	DisGeNET	Detail
We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recomb...	DisGeNET	Detail
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occu...	DisGeNET	Detail
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in tra...	DisGeNET	Detail
Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G i...	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: rs104894724 dbSNP
Genome: hg19
Position: chr19:55,665,514-55,665,514
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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