CYP27B1 cytochrome P450 family 27 subfamily B member 1
Information
- Symbol
- CYP27B1
- Type
- protein-coding
- Description
- cytochrome P450 family 27 subfamily B member 1
- Entrez Gene ID
- 1594
- Genome
- hg19
- Position
- chr12:58,156,117-58,160,861
- Genome
- hg38
- Position
- chr12:57,762,334-57,767,078
- MIM
- 609506 OMIM
- HGNC
- HGNC:2606 HGNC
- Ensembl
- ENSG00000111012 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 16 | 116 |
| Likely pathogenic | 0 | 46 |
| Benign | 0 | 20 |
| Likely benign | 0 | 460 |
| Conflicting classifications of pathogenicity | 0 | 26 |
| Uncertain significance | 0 | 220 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
72 |
 |
758 |
 |
16 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Search word | : | |
| 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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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CP2B |
| SYNONYM | CYP1 |
| SYNONYM | CYP1alpha |
| SYNONYM | CYP27B |
| SYNONYM | P450c1 |
| SYNONYM | PDDR |
| SYNONYM | VDD1 |
| SYNONYM | VDDR |
| SYNONYM | VDDRI |
| SYNONYM | VDR |
| MIM | 609506 OMIM |
| HGNC | HGNC:2606 HGNC |
| Ensembl | ENSG00000111012 Ensembl |
| AllianceGenome | HGNC:2606 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000713544.1 | hg38 | chr12 | 57,762,334 | 57,767,078 | 4,745 |
| ENST00000713545.1 | hg38 | chr12 | 57,762,334 | 57,767,078 | 4,745 |
| ENST00000546567.5 | hg38 | chr12 | 57,764,137 | 57,765,685 | 1,549 |
| ENST00000228606.9 | hg38 | chr12 | 57,762,334 | 57,767,078 | 4,745 |
| ENST00000713544.1 | hg19 | chr12 | 58,156,117 | 58,160,861 | 4,745 |
| ENST00000713545.1 | hg19 | chr12 | 58,156,117 | 58,160,861 | 4,745 |
| ENST00000228606.9 | hg19 | chr12 | 58,156,117 | 58,160,861 | 4,745 |
| ENST00000546567.5 | hg19 | chr12 | 58,157,920 | 58,159,468 | 1,549 |
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