HYOU1 hypoxia up-regulated 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 58 |
Likely benign | 0 | 322 |
Conflicting classifications of pathogenicity | 0 | 10 |
Uncertain significance | 0 | 809 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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96 |
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1,085 |
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4 |
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
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 | GRP-170 |
SYNONYM | Grp170 |
SYNONYM | HSP12A |
SYNONYM | IMD59 |
SYNONYM | ORP-150 |
SYNONYM | ORP150 |
MIM | 601746 OMIM |
HGNC | HGNC:16931 HGNC |
Ensembl | ENSG00000149428 Ensembl |
AllianceGenome | HGNC:16931 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000652093.1 | hg38 | chr11 | 119,044,311 | 119,057,227 | 12,917 |
ENST00000530473.6 | hg38 | chr11 | 119,044,260 | 119,057,024 | 12,765 |
ENST00000614711.5 | hg38 | chr11 | 119,044,260 | 119,057,227 | 12,968 |
ENST00000534233.6 | hg38 | chr11 | 119,044,260 | 119,057,105 | 12,846 |
ENST00000621959.4 | hg38 | chr11 | 119,045,311 | 119,057,134 | 11,824 |
ENST00000694932.1 | hg38 | chr11 | 119,044,311 | 119,057,142 | 12,832 |
ENST00000694935.1 | hg38 | chr11 | 119,044,311 | 119,057,202 | 12,892 |
ENST00000617285.5 | hg38 | chr11 | 119,044,188 | 119,057,205 | 13,018 |
ENST00000612687.4 | hg38 | chr11 | 119,044,192 | 119,057,157 | 12,966 |
ENST00000530473.6 | hg19 | chr11 | 118,914,971 | 118,927,735 | 12,765 |
ENST00000617285.5 | hg19 | chr11 | 118,914,899 | 118,927,916 | 13,018 |
ENST00000614711.5 | hg19 | chr11 | 118,914,971 | 118,927,938 | 12,968 |
ENST00000652093.1 | hg19 | chr11 | 118,915,022 | 118,927,938 | 12,917 |
ENST00000534233.6 | hg19 | chr11 | 118,914,971 | 118,927,816 | 12,846 |
ENST00000612687.4 | hg19 | chr11 | 118,914,903 | 118,927,868 | 12,966 |
ENST00000621959.4 | hg19 | chr11 | 118,916,023 | 118,927,845 | 11,823 |
ENST00000694932.1 | hg19 | chr11 | 118,915,022 | 118,927,853 | 12,832 |
ENST00000694935.1 | hg19 | chr11 | 118,915,022 | 118,927,913 | 12,892 |
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