chr19:55665514:G>A Detail (hg19) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,665,514-55,665,514
hg38 chr19:55,154,146-55,154,146 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.433C>T NP_000354.4:p.Arg145Trp
Ensemble ENST00000344887.10:c.433C>T ENST00000344887.10:p.Arg145Trp
ENST00000588882.1:c.358C>T ENST00000588882.1:p.Arg120Trp
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
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 COSM475295 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
Pathogenic 2022-12-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-03-07 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2019-01-21 no assertion criteria provided restrictive cardiomyopathy,hypertrophic cardiomyopathy germline Detail
Pathogenic 2019-01-21 no assertion criteria provided restrictive cardiomyopathy,hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-10-01 criteria provided, single submitter sudden infant death syndrome germline Detail
Pathogenic 2024-02-27 criteria provided, single submitter TNNI3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.257 Cardiomyopathy, Hypertrophic, Familial Purified recombinant wild-type cTnI and three of its fHCM-related missense mutan... BeFree 14575308 Detail
0.362 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) NA CLINVAR Detail
0.257 Cardiomyopathy, Hypertrophic, Familial Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin ... BeFree 24418317 Detail
0.041 hypertrophic cardiomyopathy The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy ... BeFree 12242271 Detail
0.257 Cardiomyopathy, Hypertrophic, Familial We have analyzed the functional effects of two HCM mutations (R145G and R162W) u... BeFree 10806205 Detail
0.254 Cardiomyopathies Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206G... BeFree 9241277 Detail
0.254 restrictive cardiomyopathy Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mut... BeFree 19651143 Detail
0.041 hypertrophic cardiomyopathy Functional consequences of the human cardiac troponin I hypertrophic cardiomyopa... BeFree 18430738 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND Cardiomyopathy, familial restrictive, 1 ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND not provided ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND Cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND multiple conditions ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND SUDDEN INFANT DEATH SYNDROME ClinVar Detail
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) AND TNNI3-related disorder ClinVar Detail
Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and... DisGeNET Detail
NA DisGeNET Detail
Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-... DisGeNET Detail
The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mut... DisGeNET Detail
We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recomb... DisGeNET Detail
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occu... DisGeNET Detail
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in tra... DisGeNET Detail
Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G i... 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
rs104894724 dbSNP
Genome
hg19
Position
chr19:55,665,514-55,665,514
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8610
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)
120492
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)
8.299306178003518E-6
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