CALM1 calmodulin 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 22 |
Likely pathogenic | 0 | 16 |
Benign | 0 | 32 |
Likely benign | 0 | 162 |
Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
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0 |
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0 |
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48 |
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218 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
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 | CALML2 |
SYNONYM | CAM2 |
SYNONYM | CAM3 |
SYNONYM | CAMB |
SYNONYM | CAMC |
SYNONYM | CAMI |
SYNONYM | CAMIII |
SYNONYM | CPVT4 |
SYNONYM | DD132 |
SYNONYM | LQT14 |
SYNONYM | PHKD |
SYNONYM | PHKD1 |
SYNONYM | caM |
MIM | 114180 OMIM |
HGNC | HGNC:1442 HGNC |
Ensembl | ENSG00000198668 Ensembl |
AllianceGenome | HGNC:1442 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000553542.5 | hg38 | chr14 | 90,397,056 | 90,405,048 | 7,993 |
ENST00000356978.9 | hg38 | chr14 | 90,397,029 | 90,408,268 | 11,240 |
ENST00000663135.1 | hg38 | chr14 | 90,399,065 | 90,404,965 | 5,901 |
ENST00000544280.6 | hg38 | chr14 | 90,398,262 | 90,405,107 | 6,846 |
ENST00000447653.8 | hg38 | chr14 | 90,397,029 | 90,405,072 | 8,044 |
ENST00000659177.1 | hg38 | chr14 | 90,397,692 | 90,404,760 | 7,069 |
ENST00000447653.8 | hg19 | chr14 | 90,863,373 | 90,871,416 | 8,044 |
ENST00000356978.9 | hg19 | chr14 | 90,863,373 | 90,874,612 | 11,240 |
ENST00000553542.5 | hg19 | chr14 | 90,863,400 | 90,871,392 | 7,993 |
ENST00000544280.6 | hg19 | chr14 | 90,864,606 | 90,871,451 | 6,846 |
ENST00000659177.1 | hg19 | chr14 | 90,864,036 | 90,871,104 | 7,069 |
ENST00000663135.1 | hg19 | chr14 | 90,865,409 | 90,871,309 | 5,901 |
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