TNNC1 troponin C1, slow skeletal and cardiac type

Information
Symbol
TNNC1
Type
protein-coding
Description
troponin C1, slow skeletal and cardiac type
Entrez Gene ID
7134
Genome
hg19
Position
chr3:52,485,116-52,488,057
Genome
hg38
Position
chr3:52,451,100-52,454,041
MIM
191040 OMIM
HGNC
HGNC:11943 HGNC
Ensembl
ENSG00000114854 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 16
Benign 0 26
Likely benign 0 198
Conflicting classifications of pathogenicity 0 44
Uncertain significance 0 338
Ranking
ClinVar
0
0
172
386
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 CMD1Z
SYNONYM CMH13
SYNONYM TN-C
SYNONYM TNC
SYNONYM TNNC
MIM 191040 OMIM
HGNC HGNC:11943 HGNC
Ensembl ENSG00000114854 Ensembl
AllianceGenome HGNC:11943
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000232975.8 hg38 chr3 52,451,100 52,454,041 2,942
ENST00000232975.8 hg19 chr3 52,485,116 52,488,057 2,942
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