VPS33A VPS33A core subunit of CORVET and HOPS complexes
Information
- Symbol
- VPS33A
- Type
- protein-coding
- Description
- VPS33A core subunit of CORVET and HOPS complexes
- Entrez Gene ID
- 65082
- Genome
- hg19
- Position
- chr12:122,714,111-122,751,041
- Genome
- hg38
- Position
- chr12:122,229,564-122,266,494
- MIM
- 610034 OMIM
- HGNC
- HGNC:18179 HGNC
- Ensembl
- ENSG00000139719 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 2 |
| Benign | 0 | 82 |
| Likely benign | 0 | 236 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 194 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
48 |
 |
454 |
 |
2 |
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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| Filtering | : |
| 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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| Category | : |
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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
|
| Category | : |
|
| 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 | MPSPS |
| MIM | 610034 OMIM |
| HGNC | HGNC:18179 HGNC |
| Ensembl | ENSG00000139719 Ensembl |
| AllianceGenome | HGNC:18179 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000541169.2 | hg38 | chr12 | 122,229,579 | 122,266,482 | 36,904 |
| ENST00000714051.1 | hg38 | chr12 | 122,261,020 | 122,266,502 | 5,483 |
| ENST00000267199.9 | hg38 | chr12 | 122,229,564 | 122,266,494 | 36,931 |
| ENST00000714049.1 | hg38 | chr12 | 122,250,820 | 122,266,414 | 15,595 |
| ENST00000714042.1 | hg38 | chr12 | 122,229,569 | 122,266,324 | 36,756 |
| ENST00000714045.1 | hg38 | chr12 | 122,229,579 | 122,266,482 | 36,904 |
| ENST00000714043.1 | hg38 | chr12 | 122,229,574 | 122,266,318 | 36,745 |
| ENST00000643696.1 | hg38 | chr12 | 122,231,886 | 122,266,433 | 34,548 |
| ENST00000451053.3 | hg38 | chr12 | 122,252,862 | 122,266,416 | 13,555 |
| ENST00000267199.9 | hg19 | chr12 | 122,714,111 | 122,751,041 | 36,931 |
| ENST00000714042.1 | hg19 | chr12 | 122,714,116 | 122,750,871 | 36,756 |
| ENST00000714043.1 | hg19 | chr12 | 122,714,121 | 122,750,865 | 36,745 |
| ENST00000541169.2 | hg19 | chr12 | 122,714,126 | 122,751,029 | 36,904 |
| ENST00000714045.1 | hg19 | chr12 | 122,714,126 | 122,751,029 | 36,904 |
| ENST00000643696.1 | hg19 | chr12 | 122,716,433 | 122,750,980 | 34,548 |
| ENST00000714049.1 | hg19 | chr12 | 122,735,367 | 122,750,961 | 15,595 |
| ENST00000451053.3 | hg19 | chr12 | 122,737,409 | 122,750,963 | 13,555 |
| ENST00000714051.1 | hg19 | chr12 | 122,745,567 | 122,751,049 | 5,483 |
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