chr19:55663249:C>T 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	chr19:55,663,249-55,663,249
hg38	chr19:55,151,881-55,151,881 View the variant detail on this assembly version.

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.586G>A	NP_000354.4:p.Asp196Asn
Ensemble	ENST00000344887.10:c.586G>A	ENST00000344887.10:p.Asp196Asn
	ENST00000588882.1:c.511G>A	ENST00000588882.1:p.Asp171Asn
	ENST00000665070.1:c.619G>A	ENST00000665070.1:p.Asp207Asn
	ENST00000714236.1:c.544G>A	ENST00000714236.1:p.Asp182Asn
	ENST00000714237.1:c.502G>A	ENST00000714237.1:p.Asp168Asn
	ENST00000714238.1:c.574G>A	ENST00000714238.1:p.Asp192Asn
	ENST00000714240.1:c.379G>A	ENST00000714240.1:p.Asp127Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2021-05-01	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 7	germline unknown	Detail
Likely pathogenic	2014-06-01	no assertion criteria provided	Primary familial hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2022-07-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2023-09-08	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2023-05-11	criteria provided, multiple submitters, no conflicts	cardiomyopathy	germline	Detail
Likely pathogenic	2022-12-29	criteria provided, single submitter		germline	Detail
Likely pathogenic	2022-04-21	criteria provided, single submitter	hypertrophic cardiomyopathy 7,Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF	unknown	Detail
Likely pathogenic	2022-04-21	criteria provided, single submitter	hypertrophic cardiomyopathy 7,Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF	unknown	Detail
Likely pathogenic	2022-04-21	criteria provided, single submitter	hypertrophic cardiomyopathy 7,Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF	unknown	Detail
Likely pathogenic	2022-04-21	criteria provided, single submitter	hypertrophic cardiomyopathy 7,Cardiomyopathy, familial restrictive, 1,dilated cardiomyopathy 2A,dilated cardiomyopathy 1FF	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.257	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Hypertrophic cardiomyopathy 7	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND not provided	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Cardiomyopathy	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Cardiovascular phenotype	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND multiple conditions	ClinVar	Detail
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND multiple conditions	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: rs104894727 dbSNP
Genome: hg19
Position: chr19:55,663,249-55,663,249
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120728
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.283082632032337E-6

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