CALM3 calmodulin 3

Information
Symbol
CALM3
Type
protein-coding
Description
calmodulin 3
Entrez Gene ID
808
Genome
hg19
Position
chr19:47,104,587-47,114,039
Genome
hg38
Position
chr19:46,601,330-46,610,782
MIM
114183 OMIM
HGNC
HGNC:1449 HGNC
Ensembl
ENSG00000160014 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 4
Benign 0 32
Likely benign 0 206
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 66
Ranking
ClinVar
0
0
68
238
2
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 CALM
SYNONYM CAM1
SYNONYM CAM2
SYNONYM CAMB
SYNONYM CPVT6
SYNONYM CaM
SYNONYM CaMIII
SYNONYM HEL-S-72
SYNONYM LQT16
SYNONYM PHKD
SYNONYM PHKD3
MIM 114183 OMIM
HGNC HGNC:1449 HGNC
Ensembl ENSG00000160014 Ensembl
AllianceGenome HGNC:1449
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000598871.5 hg38 chr19 46,601,330 46,609,190 7,861
ENST00000594523.5 hg38 chr19 46,601,366 46,609,182 7,817
ENST00000597743.5 hg38 chr19 46,601,276 46,609,319 8,044
ENST00000596362.1 hg38 chr19 46,602,072 46,609,770 7,699
ENST00000599839.5 hg38 chr19 46,602,069 46,609,996 7,928
ENST00000391918.6 hg38 chr19 46,601,074 46,609,305 8,232
ENST00000291295.14 hg38 chr19 46,601,330 46,610,782 9,453
ENST00000391918.6 hg19 chr19 47,104,331 47,112,562 8,232
ENST00000597743.5 hg19 chr19 47,104,533 47,112,576 8,044
ENST00000598871.5 hg19 chr19 47,104,587 47,112,447 7,861
ENST00000291295.14 hg19 chr19 47,104,587 47,114,039 9,453
ENST00000594523.5 hg19 chr19 47,104,623 47,112,439 7,817
ENST00000599839.5 hg19 chr19 47,105,326 47,113,253 7,928
ENST00000596362.1 hg19 chr19 47,105,329 47,113,027 7,699
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