CALM3 calmodulin 3
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 | |
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0 |
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0 |
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68 |
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238 |
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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
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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