TNNI3 troponin I3, cardiac type

Information
Symbol
TNNI3
Type
protein-coding
Description
troponin I3, cardiac type
Entrez Gene ID
7137
Genome
hg19
Position
chr19:55,663,135-55,669,100
Genome
hg38
Position
chr19:55,151,767-55,157,732
MIM
191044 OMIM
HGNC
HGNC:11947 HGNC
Ensembl
ENSG00000129991 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 23 68
Likely pathogenic 3 78
Benign 2 66
Likely benign 0 410
Conflicting classifications of pathogenicity 0 125
Uncertain significance 0 662
Ranking
ClinVar
0
0
390
804
36
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMD1FF
SYNONYM CMD2A
SYNONYM CMH7
SYNONYM RCM1
SYNONYM TNNC1
SYNONYM cTnI
MIM 191044 OMIM
HGNC HGNC:11947 HGNC
Ensembl ENSG00000129991 Ensembl
AllianceGenome HGNC:11947
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000665070.1 hg38 chr19 55,151,772 55,157,732 5,961
ENST00000714240.1 hg38 chr19 55,151,771 55,156,725 4,955
ENST00000344887.10 hg38 chr19 55,151,767 55,157,732 5,966
ENST00000714237.1 hg38 chr19 55,151,767 55,157,732 5,966
ENST00000714238.1 hg38 chr19 55,151,767 55,157,732 5,966
ENST00000714236.1 hg38 chr19 55,151,767 55,157,732 5,966
ENST00000588882.1 hg38 chr19 55,151,771 55,156,725 4,955
ENST00000714236.1 hg19 chr19 55,663,135 55,669,100 5,966
ENST00000714237.1 hg19 chr19 55,663,135 55,669,100 5,966
ENST00000714238.1 hg19 chr19 55,663,135 55,669,100 5,966
ENST00000344887.10 hg19 chr19 55,663,135 55,669,100 5,966
ENST00000714240.1 hg19 chr19 55,663,139 55,668,093 4,955
ENST00000588882.1 hg19 chr19 55,663,139 55,668,093 4,955
ENST00000665070.1 hg19 chr19 55,663,140 55,669,100 5,961
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