HIGD1C HIG1 hypoxia inducible domain family member 1C
Information
- Symbol
- HIGD1C
- Type
- protein-coding
- Description
- HIG1 hypoxia inducible domain family member 1C
- Entrez Gene ID
- 613227
- Genome
- hg19
- Position
- chr12:51,346,327-51,364,390
- Genome
- hg38
- Position
- chr12:50,952,544-50,970,607
- MIM
- 620803 OMIM
- HGNC
- HGNC:28044 HGNC
- Ensembl
- ENSG00000214511 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | GM921 |
| MIM | 620803 OMIM |
| HGNC | HGNC:28044 HGNC |
| Ensembl | ENSG00000214511 Ensembl |
| AllianceGenome | HGNC:28044 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000398455.3 | hg38 | chr12 | 50,953,922 | 50,970,506 | 16,585 |
| ENST00000695930.1 | hg38 | chr12 | 50,952,538 | 50,970,594 | 18,057 |
| ENST00000695931.1 | hg38 | chr12 | 50,952,544 | 50,970,607 | 18,064 |
| ENST00000695930.1 | hg19 | chr12 | 51,346,321 | 51,364,377 | 18,057 |
| ENST00000695931.1 | hg19 | chr12 | 51,346,327 | 51,364,390 | 18,064 |
| ENST00000398455.3 | hg19 | chr12 | 51,347,705 | 51,364,289 | 16,585 |
| Key | Value |
|---|---|
| strand | + |
| start | 51,347,781 |
| Gene Symbol | HIGD1C |
| Entrez GeneId | 613,227 |
| Chr Band | 12q13.12 |
| end | 51,364,288 |
| chr | chr12 |
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