CD33 CD33 molecule
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 26 | 36 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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82 |
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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
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 |
Search Word
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 | CD33rSiglec |
SYNONYM | SIGLEC-3 |
SYNONYM | SIGLEC3 |
SYNONYM | p67 |
MIM | 159590 OMIM |
HGNC | HGNC:1659 HGNC |
Ensembl | ENSG00000105383 Ensembl |
AllianceGenome | HGNC:1659 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000262262.5 | hg38 | chr19 | 51,225,080 | 51,240,016 | 14,937 |
ENST00000421133.6 | hg38 | chr19 | 51,225,064 | 51,239,942 | 14,879 |
ENST00000436584.6 | hg38 | chr19 | 51,225,064 | 51,236,572 | 11,509 |
ENST00000391796.7 | hg38 | chr19 | 51,225,098 | 51,235,966 | 10,869 |
ENST00000436584.6 | hg19 | chr19 | 51,728,320 | 51,739,827 | 11,508 |
ENST00000421133.6 | hg19 | chr19 | 51,728,320 | 51,743,197 | 14,878 |
ENST00000262262.5 | hg19 | chr19 | 51,728,336 | 51,743,271 | 14,936 |
ENST00000391796.7 | hg19 | chr19 | 51,728,354 | 51,739,221 | 10,868 |
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