PFDN6 prefoldin subunit 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 80 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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98 |
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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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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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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 | H2-KE2 |
SYNONYM | HKE2 |
SYNONYM | KE-2 |
SYNONYM | PFD6 |
MIM | 605660 OMIM |
HGNC | HGNC:4926 HGNC |
Ensembl | ENSG00000204220 Ensembl |
AllianceGenome | HGNC:4926 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000374606.10 | hg38 | chr6 | 33,289,601 | 33,290,933 | 1,333 |
ENST00000374610.6 | hg38 | chr6 | 33,289,597 | 33,290,862 | 1,266 |
ENST00000395131.5 | hg38 | chr6 | 33,289,302 | 33,290,933 | 1,632 |
ENST00000463584.1 | hg38 | chr6 | 33,289,775 | 33,298,401 | 8,627 |
ENST00000374607.5 | hg38 | chr6 | 33,289,597 | 33,290,934 | 1,338 |
ENST00000395131.5 | hg19 | chr6 | 33,257,079 | 33,258,710 | 1,632 |
ENST00000374610.6 | hg19 | chr6 | 33,257,374 | 33,258,639 | 1,266 |
ENST00000374607.5 | hg19 | chr6 | 33,257,374 | 33,258,711 | 1,338 |
ENST00000374606.10 | hg19 | chr6 | 33,257,378 | 33,258,710 | 1,333 |
ENST00000463584.1 | hg19 | chr6 | 33,257,552 | 33,266,178 | 8,627 |
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