chr19:55665439: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	chr19:55,665,439-55,665,439
hg38	chr19:55,154,071-55,154,071 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.508C>G	NP_000354.4:p.Arg170Gly
Ensemble	ENST00000344887.10:c.508C>G	ENST00000344887.10:p.Arg170Gly
	ENST00000588882.1:c.433C>G	ENST00000588882.1:p.Arg145Gly
	ENST00000665070.1:c.541C>G	ENST00000665070.1:p.Arg181Gly
	ENST00000714236.1:c.466C>G	ENST00000714236.1:p.Arg156Gly
	ENST00000714237.1:c.424C>G	ENST00000714237.1:p.Arg142Gly
	ENST00000714238.1:c.496C>G	ENST00000714238.1:p.Arg166Gly
	ENST00000714240.1:c.301C>G	ENST00000714240.1:p.Arg101Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2013-05-22	criteria provided, single submitter	not specified	germline	Detail
Likely pathogenic	2013-02-19	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 1,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF	germline	Detail
Likely pathogenic	2013-02-19	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 1,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF	germline	Detail
Likely pathogenic	2013-02-19	criteria provided, single submitter	Cardiomyopathy, familial restrictive, 1,hypertrophic cardiomyopathy 7,dilated cardiomyopathy 1FF	germline	Detail
Uncertain significance	2021-05-13	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
0.362	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	NA	CLINVAR		Detail
0.254	restrictive cardiomyopathy	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND not specified	ClinVar	Detail
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs727503504 dbSNP
Genome: hg19
Position: chr19:55,665,439-55,665,439
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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