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 | |
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0 |
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0 |
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4 |
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74 |
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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
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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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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 | 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 |
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ID | Genome | Chromosome | Start | End | Length |
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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 |
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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 |
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