HIGD1B HIG1 hypoxia inducible domain family member 1B
Information
- Symbol
- HIGD1B
- Type
- protein-coding
- Description
- HIG1 hypoxia inducible domain family member 1B
- Entrez Gene ID
- 51751
- Genome
- hg19
- Position
- chr17:42,925,251-42,927,844
- Genome
- hg38
- Position
- chr17:44,847,883-44,850,476
- MIM
- 620420 OMIM
- HGNC
- HGNC:24318 HGNC
- Ensembl
- ENSG00000131097 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
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
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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Target data | : |
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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Search word | : | |
Filtering | : |
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 | CLST11240 |
SYNONYM | CLST11240-15 |
MIM | 620420 OMIM |
HGNC | HGNC:24318 HGNC |
Ensembl | ENSG00000131097 Ensembl |
AllianceGenome | HGNC:24318 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000253410.3 | hg38 | chr17 | 44,847,883 | 44,850,476 | 2,594 |
ENST00000587021.1 | hg38 | chr17 | 44,847,941 | 44,850,476 | 2,536 |
ENST00000591513.5 | hg38 | chr17 | 44,846,353 | 44,850,476 | 4,124 |
ENST00000591513.5 | hg19 | chr17 | 42,923,721 | 42,927,844 | 4,124 |
ENST00000253410.3 | hg19 | chr17 | 42,925,251 | 42,927,844 | 2,594 |
ENST00000587021.1 | hg19 | chr17 | 42,925,309 | 42,927,844 | 2,536 |
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