PRKCSH PRKCSH beta subunit of glucosidase II
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 36 |
Likely pathogenic | 0 | 28 |
Benign | 6 | 113 |
Likely benign | 0 | 250 |
Conflicting classifications of pathogenicity | 0 | 26 |
Uncertain significance | 0 | 226 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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138 |
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421 |
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | 80K-H |
SYNONYM | AGE-R2 |
SYNONYM | G19P1 |
SYNONYM | GIIB |
SYNONYM | GIIbeta |
SYNONYM | GluIIbeta |
SYNONYM | PCLD |
SYNONYM | PCLD1 |
SYNONYM | PKCSH |
SYNONYM | PLD1 |
SYNONYM | VASAP-60 |
MIM | 177060 OMIM |
HGNC | HGNC:9411 HGNC |
Ensembl | ENSG00000130175 Ensembl |
AllianceGenome | HGNC:9411 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000592741.5 | hg38 | chr19 | 11,435,635 | 11,450,968 | 15,334 |
ENST00000589838.5 | hg38 | chr19 | 11,436,118 | 11,450,940 | 14,823 |
ENST00000587327.5 | hg38 | chr19 | 11,435,745 | 11,450,867 | 15,123 |
ENST00000591462.6 | hg38 | chr19 | 11,435,635 | 11,450,965 | 15,331 |
ENST00000677123.1 | hg38 | chr19 | 11,435,635 | 11,450,968 | 15,334 |
ENST00000591462.6 | hg19 | chr19 | 11,546,456 | 11,561,780 | 15,325 |
ENST00000587327.5 | hg19 | chr19 | 11,546,566 | 11,561,682 | 15,117 |
ENST00000589838.5 | hg19 | chr19 | 11,546,939 | 11,561,755 | 14,817 |
ENST00000677123.1 | hg19 | chr19 | 11,546,456 | 11,561,783 | 15,328 |
ENST00000592741.5 | hg19 | chr19 | 11,546,456 | 11,561,783 | 15,328 |
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