PHB2 prohibitin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
32 |
 |
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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| 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 | |||||||||||
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| 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 | BAP |
| SYNONYM | BCAP37 |
| SYNONYM | Bap37 |
| SYNONYM | PNAS-141 |
| SYNONYM | REA |
| SYNONYM | hBAP |
| SYNONYM | p22 |
| MIM | 610704 OMIM |
| HGNC | HGNC:30306 HGNC |
| Ensembl | ENSG00000215021 Ensembl |
| AllianceGenome | HGNC:30306 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000535923.6 | hg38 | chr12 | 6,965,327 | 6,970,664 | 5,338 |
| ENST00000542912.5 | hg38 | chr12 | 6,965,464 | 6,970,649 | 5,186 |
| ENST00000440277.6 | hg38 | chr12 | 6,965,327 | 6,970,753 | 5,427 |
| ENST00000399433.7 | hg38 | chr12 | 6,965,352 | 6,970,723 | 5,372 |
| ENST00000546111.5 | hg38 | chr12 | 6,965,352 | 6,970,751 | 5,400 |
| ENST00000542912.5 | hg19 | chr12 | 7,074,627 | 7,079,812 | 5,186 |
| ENST00000535923.6 | hg19 | chr12 | 7,074,490 | 7,079,827 | 5,338 |
| ENST00000440277.6 | hg19 | chr12 | 7,074,490 | 7,079,916 | 5,427 |
| ENST00000399433.7 | hg19 | chr12 | 7,074,515 | 7,079,886 | 5,372 |
| ENST00000546111.5 | hg19 | chr12 | 7,074,515 | 7,079,914 | 5,400 |
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