PFDN5 prefoldin subunit 5
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 2 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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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
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Target data | : |
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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 | MM-1 |
SYNONYM | MM1 |
SYNONYM | PFD5 |
MIM | 604899 OMIM |
HGNC | HGNC:8869 HGNC |
Ensembl | ENSG00000123349 Ensembl |
AllianceGenome | HGNC:8869 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000547130.6 | hg38 | chr12 | 53,295,542 | 53,299,450 | 3,909 |
ENST00000334478.9 | hg38 | chr12 | 53,295,542 | 53,299,450 | 3,909 |
ENST00000351500.7 | hg38 | chr12 | 53,295,525 | 53,299,450 | 3,926 |
ENST00000628881.2 | hg38 | chr12 | 53,295,509 | 53,299,452 | 3,944 |
ENST00000551018.5 | hg38 | chr12 | 53,295,291 | 53,299,450 | 4,160 |
ENST00000550846.5 | hg38 | chr12 | 53,295,536 | 53,299,450 | 3,915 |
ENST00000549759.2 | hg38 | chr12 | 53,295,506 | 53,299,447 | 3,942 |
ENST00000552742.6 | hg38 | chr12 | 53,295,556 | 53,299,450 | 3,895 |
ENST00000547130.6 | hg19 | chr12 | 53,689,326 | 53,693,234 | 3,909 |
ENST00000334478.9 | hg19 | chr12 | 53,689,326 | 53,693,234 | 3,909 |
ENST00000351500.7 | hg19 | chr12 | 53,689,309 | 53,693,234 | 3,926 |
ENST00000549759.2 | hg19 | chr12 | 53,689,290 | 53,693,231 | 3,942 |
ENST00000551018.5 | hg19 | chr12 | 53,689,075 | 53,693,234 | 4,160 |
ENST00000628881.2 | hg19 | chr12 | 53,689,293 | 53,693,236 | 3,944 |
ENST00000552742.6 | hg19 | chr12 | 53,689,340 | 53,693,234 | 3,895 |
ENST00000550846.5 | hg19 | chr12 | 53,689,320 | 53,693,234 | 3,915 |
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