chr19:55151860:C>T Detail (hg38) (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	chr19:55,663,228-55,663,228 View the variant detail on this assembly version.
hg38	chr19:55,151,860-55,151,860

HGVS

TNNI3

Type	Transcript	Protein
RefSeq	NM_000363.4:c.607G>A	NP_000354.4:p.Gly203Ser
Ensemble	ENST00000344887.10:c.607G>A	ENST00000344887.10:p.Gly203Ser
	ENST00000588882.1:c.532G>A	ENST00000588882.1:p.Gly178Ser
	ENST00000665070.1:c.640G>A	ENST00000665070.1:p.Gly214Ser
	ENST00000714236.1:c.565G>A	ENST00000714236.1:p.Gly189Ser
	ENST00000714237.1:c.523G>A	ENST00000714237.1:p.Gly175Ser
	ENST00000714238.1:c.595G>A	ENST00000714238.1:p.Gly199Ser
	ENST00000714240.1:c.400G>A	ENST00000714240.1:p.Gly134Ser

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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		apical hypertropic cardiomyopathy (cardiac hypertrophy only at the apex)	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View
Pathogenic		Wolff-Parkinson-White (WPW) syndrome	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-08-01	no assertion criteria provided	hypertrophic cardiomyopathy 7	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.005	Hyperlipoproteinemia Type IIa	This model (designated TnI-203/MHC-403) was generated by crossbreeding mice with...	BeFree	18362229	Detail
<0.001	Hyperlipoproteinemia Type IIa	This model (designated TnI-203/MHC-403) was generated by crossbreeding mice with...	BeFree	18362229	Detail
0.257	Cardiomyopathy, Hypertrophic, Familial	Purified recombinant wild-type cTnI and three of its fHCM-related missense mutan...	BeFree	14575308	Detail
0.002	Cardiomyopathy, Hypertrophic, Familial	We have studied the influence of phosphorylation of human wild-type cTnI and of ...	BeFree	14596793	Detail
0.257	Cardiomyopathy, Hypertrophic, Familial	Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial h...	BeFree	14596793	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) AND Hypertrophic cardiomyopathy 7	ClinVar	Detail
This model (designated TnI-203/MHC-403) was generated by crossbreeding mice with the Gly203Ser cardi...	DisGeNET	Detail
This model (designated TnI-203/MHC-403) was generated by crossbreeding mice with the Gly203Ser cardi...	DisGeNET	Detail
Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and...	DisGeNET	Detail
We have studied the influence of phosphorylation of human wild-type cTnI and of two mutant cTnI (G20...	DisGeNET	Detail
Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomy...	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: rs267607127 dbSNP
Genome: hg38
Position: chr19:55,151,860-55,151,860
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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