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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Target data | : |
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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 | 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 |
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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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