PSMG3 proteasome assembly chaperone 3
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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8 |
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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
[No Data.]
Locus Zoom
Variants
Search Word
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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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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 | C7orf48 |
SYNONYM | PAC3 |
MIM | 617528 OMIM |
HGNC | HGNC:22420 HGNC |
Ensembl | ENSG00000157778 Ensembl |
AllianceGenome | HGNC:22420 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000404674.7 | hg38 | chr7 | 1,567,351 | 1,570,045 | 2,695 |
ENST00000252329.3 | hg38 | chr7 | 1,567,613 | 1,571,005 | 3,393 |
ENST00000288607.3 | hg38 | chr7 | 1,567,332 | 1,570,032 | 2,701 |
ENST00000288607.3 | hg19 | chr7 | 1,606,968 | 1,609,668 | 2,701 |
ENST00000404674.7 | hg19 | chr7 | 1,606,987 | 1,609,681 | 2,695 |
ENST00000252329.3 | hg19 | chr7 | 1,607,249 | 1,610,641 | 3,393 |
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