chr19:55154068: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	chr19:55,665,436-55,665,436 View the variant detail on this assembly version.
hg38	chr19:55,154,068-55,154,068

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.511G>A	NP_000354.4:p.Ala171Thr
Ensemble	ENST00000344887.10:c.511G>A	ENST00000344887.10:p.Ala171Thr
	ENST00000588882.1:c.436G>A	ENST00000588882.1:p.Ala146Thr
	ENST00000665070.1:c.544G>A	ENST00000665070.1:p.Ala182Thr
	ENST00000714236.1:c.469G>A	ENST00000714236.1:p.Ala157Thr
	ENST00000714237.1:c.427G>A	ENST00000714237.1:p.Ala143Thr
	ENST00000714238.1:c.499G>A	ENST00000714238.1:p.Ala167Thr
	ENST00000714240.1:c.304G>A	ENST00000714240.1:p.Ala102Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-01-01	no assertion criteria provided	Cardiomyopathy, familial restrictive, 1	germline	Detail
Uncertain significance	2023-01-19	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2021-12-28	criteria provided, single submitter	not specified	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.511G>A (p.Ala171Thr) AND Cardiomyopathy, familial restrictive, 1	ClinVar	Detail
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) AND not specified	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: rs121917761 dbSNP
Genome: hg38
Position: chr19:55,154,068-55,154,068
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser