AKAP8 A-kinase anchoring protein 8

Information
Symbol
AKAP8
Type
protein-coding
Description
A-kinase anchoring protein 8
Entrez Gene ID
10270
Genome
hg19
Position
chr19:15,464,196-15,490,598
Genome
hg38
Position
chr19:15,353,385-15,379,787
MIM
604692 OMIM
HGNC
HGNC:378 HGNC
Ensembl
ENSG00000105127 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 30
Likely benign 0 42
Uncertain significance 0 114
Ranking
ClinVar
0
0
2
182
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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
Category :
Search word :
Filtering :
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
Category :
Search word :
Filtering :
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
TypeID
SYNONYM AKAP 95
SYNONYM AKAP-8
SYNONYM AKAP-95
SYNONYM AKAP95
MIM 604692 OMIM
HGNC HGNC:378 HGNC
Ensembl ENSG00000105127 Ensembl
AllianceGenome HGNC:378
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000269701.7 hg38 chr19 15,353,385 15,379,787 26,403
ENST00000680245.1 hg38 chr19 15,353,400 15,379,785 26,386
ENST00000269701.7 hg19 chr19 15,464,196 15,490,598 26,403
ENST00000680245.1 hg19 chr19 15,464,211 15,490,596 26,386
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