CALR calreticulin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 28 |
| Likely benign | 0 | 16 |
| not provided | 17 | 0 |
| Uncertain significance | 0 | 32 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
4 |
![]() |
74 |
![]() |
0 |
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 | CALR1 |
| SYNONYM | CRT |
| SYNONYM | HEL-S-99n |
| SYNONYM | RO |
| SYNONYM | SSA |
| SYNONYM | cC1qR |
| MIM | 109091 OMIM |
| HGNC | HGNC:1455 HGNC |
| Ensembl | ENSG00000179218 Ensembl |
| AllianceGenome | HGNC:1455 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000588454.6 | hg38 | chr19 | 12,938,645 | 12,944,489 | 5,845 |
| ENST00000316448.10 | hg38 | chr19 | 12,938,609 | 12,944,489 | 5,881 |
| ENST00000586760.2 | hg38 | chr19 | 12,938,609 | 12,944,403 | 5,795 |
| ENST00000586760.2 | hg19 | chr19 | 13,049,423 | 13,055,217 | 5,795 |
| ENST00000316448.10 | hg19 | chr19 | 13,049,423 | 13,055,303 | 5,881 |
| ENST00000588454.6 | hg19 | chr19 | 13,049,459 | 13,055,303 | 5,845 |
| Key | Value |
|---|---|
| strand | + |
| start | 13,049,413 |
| Gene Symbol | CALR |
| Entrez GeneId | 811 |
| Chr Band | 19p13.3-p13.2 |
| end | 13,055,303 |
| chr | chr19 |
| Name | calreticulin |
Genome browser




