PRKCG protein kinase C gamma
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 40 |
Likely pathogenic | 0 | 40 |
Benign | 8 | 112 |
Likely benign | 0 | 86 |
Conflicting classifications of pathogenicity | 0 | 26 |
not provided | 0 | 30 |
Uncertain significance | 0 | 274 |
Ranking
ClinVar | |
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0 |
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0 |
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74 |
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422 |
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40 |
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 |
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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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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | PKC-gamma |
SYNONYM | PKCC |
SYNONYM | PKCG |
SYNONYM | PKCI(3) |
SYNONYM | PKCgamma |
SYNONYM | SCA14 |
MIM | 176980 OMIM |
HGNC | HGNC:9402 HGNC |
Ensembl | ENSG00000126583 Ensembl |
AllianceGenome | HGNC:9402 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000263431.4 | hg38 | chr19 | 53,882,197 | 53,907,652 | 25,456 |
ENST00000683513.1 | hg38 | chr19 | 53,882,197 | 53,906,915 | 24,719 |
ENST00000682028.1 | hg38 | chr19 | 53,882,189 | 53,907,594 | 25,406 |
ENST00000682028.1 | hg19 | chr19 | 54,385,443 | 54,410,848 | 25,406 |
ENST00000683513.1 | hg19 | chr19 | 54,385,451 | 54,410,169 | 24,719 |
ENST00000263431.4 | hg19 | chr19 | 54,385,451 | 54,410,906 | 25,456 |
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