AKAP14 A-kinase anchoring protein 14
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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10 |
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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 |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 | AKAP28 |
SYNONYM | PRKA14 |
MIM | 300462 OMIM |
HGNC | HGNC:24061 HGNC |
Ensembl | ENSG00000186471 Ensembl |
AllianceGenome | HGNC:24061 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000371422.5 | hg38 | chrX | 119,896,193 | 119,903,652 | 7,460 |
ENST00000371425.8 | hg38 | chrX | 119,895,837 | 119,920,712 | 24,876 |
ENST00000371431.8 | hg38 | chrX | 119,895,893 | 119,920,716 | 24,824 |
ENST00000334356.2 | hg38 | chrX | 119,896,193 | 119,920,716 | 24,524 |
ENST00000371425.8 | hg19 | chrX | 119,029,800 | 119,054,675 | 24,876 |
ENST00000371431.8 | hg19 | chrX | 119,029,856 | 119,054,679 | 24,824 |
ENST00000371422.5 | hg19 | chrX | 119,030,156 | 119,037,615 | 7,460 |
ENST00000334356.2 | hg19 | chrX | 119,030,156 | 119,054,679 | 24,524 |
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