APOA5 apolipoprotein A5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 18 |
| Benign | 2 | 40 |
| Likely benign | 0 | 128 |
| Conflicting classifications of pathogenicity | 0 | 20 |
| Uncertain significance | 0 | 240 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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94 |
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320 |
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6 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | APOAV |
| SYNONYM | RAP3 |
| MIM | 606368 OMIM |
| HGNC | HGNC:17288 HGNC |
| Ensembl | ENSG00000110243 Ensembl |
| AllianceGenome | HGNC:17288 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000227665.9 | hg38 | chr11 | 116,789,367 | 116,791,879 | 2,513 |
| ENST00000673688.1 | hg38 | chr11 | 116,790,077 | 116,791,871 | 1,795 |
| ENST00000542499.5 | hg38 | chr11 | 116,789,373 | 116,792,420 | 3,048 |
| ENST00000227665.9 | hg19 | chr11 | 116,660,083 | 116,662,595 | 2,513 |
| ENST00000542499.5 | hg19 | chr11 | 116,660,089 | 116,663,136 | 3,048 |
| ENST00000673688.1 | hg19 | chr11 | 116,660,793 | 116,662,587 | 1,795 |
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