AKAP4 A-kinase anchoring protein 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 12 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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70 |
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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
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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 | |||||||||||
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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 | ||||||||||||||
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| 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 | AKAP 82 |
| SYNONYM | AKAP-4 |
| SYNONYM | AKAP82 |
| SYNONYM | CT99 |
| SYNONYM | FSC1 |
| SYNONYM | HI |
| SYNONYM | PRKA4 |
| SYNONYM | hAKAP82 |
| SYNONYM | p82 |
| MIM | 300185 OMIM |
| HGNC | HGNC:374 HGNC |
| Ensembl | ENSG00000147081 Ensembl |
| AllianceGenome | HGNC:374 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000358526.7 | hg38 | chrX | 50,190,777 | 50,201,007 | 10,231 |
| ENST00000376064.7 | hg38 | chrX | 50,190,777 | 50,200,372 | 9,596 |
| ENST00000376064.7 | hg19 | chrX | 49,955,420 | 49,965,023 | 9,604 |
| ENST00000358526.7 | hg19 | chrX | 49,955,420 | 49,965,658 | 10,239 |
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