chr19:55154070:C>T Detail (hg38) (TNNI3)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr19:55,665,438-55,665,438 View the variant detail on this assembly version.
hg38	chr19:55,154,070-55,154,070

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.509G>A	NP_000354.4:p.Arg170Gln
Ensemble	ENST00000344887.10:c.509G>A	ENST00000344887.10:p.Arg170Gln
	ENST00000588882.1:c.434G>A	ENST00000588882.1:p.Arg145Gln
	ENST00000665070.1:c.542G>A	ENST00000665070.1:p.Arg181Gln
	ENST00000714236.1:c.467G>A	ENST00000714236.1:p.Arg156Gln
	ENST00000714237.1:c.425G>A	ENST00000714237.1:p.Arg142Gln
	ENST00000714238.1:c.497G>A	ENST00000714238.1:p.Arg166Gln
	ENST00000714240.1:c.302G>A	ENST00000714240.1:p.Arg101Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	COSM4429422	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-03-04	criteria provided, single submitter	restrictive cardiomyopathy,hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2015-03-04	criteria provided, single submitter	restrictive cardiomyopathy,hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2023-08-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-02-18	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2023-07-06	criteria provided, single submitter		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.509G>A (p.Arg170Gln) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) AND not provided	ClinVar	Detail
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) AND Cardiovascular phenotype	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: rs727503503 dbSNP
Genome: hg38
Position: chr19:55,154,070-55,154,070
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser