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 | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
48 |
![]() |
218 |
![]() |
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
|
| 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 | |||||||||||||||
| Type | ID |
|---|---|
| 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 |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| 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 |
Genome browser




