chr19:55151892:C>T Detail (hg38) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,663,260-55,663,260 View the variant detail on this assembly version.
hg38 chr19:55,151,892-55,151,892

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.575G>A NP_000354.4:p.Arg192His
Ensemble ENST00000344887.10:c.575G>A ENST00000344887.10:p.Arg192His
ENST00000588882.1:c.500G>A ENST00000588882.1:p.Arg167His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 COSM5183237 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic familial restrictive cardiomyopathy germline MGS000070
(TMGS000142) 		Kenjiro Kosaki
 Keio University
Juntendo University
Pathogenic familial restrictive cardiomyopathy germline MGS000070
(TMGS000142) 		Kenjiro Kosaki
 Keio University
Juntendo University
Pathogenic familial restrictive cardiomyopathy germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-02-14 criteria provided, single submitter Cardiomyopathy, familial restrictive, 1 germline Detail
Pathogenic 2019-05-02 criteria provided, single submitter hypertrophic cardiomyopathy,restrictive cardiomyopathy germline Detail
Pathogenic 2019-05-02 criteria provided, single submitter hypertrophic cardiomyopathy,restrictive cardiomyopathy germline Detail
Likely pathogenic 2014-08-22 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-10-19 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-12-18 criteria provided, single submitter germline Detail
Pathogenic 2022-09-14 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic 2018-01-03 criteria provided, single submitter restrictive cardiomyopathy germline Detail
Pathogenic 2022-08-08 criteria provided, single submitter sudden infant death syndrome unknown Detail
Pathogenic criteria provided, single submitter dilated cardiomyopathy 2A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) NA CLINVAR Detail
0.257 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Cardiomyopathy, familial restrictive, 1 ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND not provided ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Cardiovascular phenotype ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Restrictive cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND SUDDEN INFANT DEATH SYNDROME ClinVar Detail
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Dilated cardiomyopathy 2A ClinVar 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
rs104894729 dbSNP
Genome
hg38
Position
chr19:55,151,892-55,151,892
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser