VPS26C VPS26 endosomal protein sorting factor C
Information
- Symbol
- VPS26C
- Type
- protein-coding
- Description
- VPS26 endosomal protein sorting factor C
- Entrez Gene ID
- 10311
- Genome
- hg19
- Position
- chr21:38,595,723-38,639,635
- Genome
- hg38
- Position
- chr21:37,223,422-37,267,334
- MIM
- 605298 OMIM
- HGNC
- HGNC:3044 HGNC
- Ensembl
- ENSG00000157538 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
40 |
 |
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
[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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| 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 | DCRA |
| SYNONYM | DSCR3 |
| SYNONYM | DSCRA |
| MIM | 605298 OMIM |
| HGNC | HGNC:3044 HGNC |
| Ensembl | ENSG00000157538 Ensembl |
| AllianceGenome | HGNC:3044 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000398998.1 | hg38 | chr21 | 37,225,544 | 37,267,532 | 41,989 |
| ENST00000476950.5 | hg38 | chr21 | 37,225,472 | 37,267,346 | 41,875 |
| ENST00000309117.11 | hg38 | chr21 | 37,223,422 | 37,267,334 | 43,913 |
| ENST00000399001.5 | hg38 | chr21 | 37,225,299 | 37,267,351 | 42,053 |
| ENST00000309117.11 | hg19 | chr21 | 38,595,723 | 38,639,635 | 43,913 |
| ENST00000399001.5 | hg19 | chr21 | 38,597,600 | 38,639,652 | 42,053 |
| ENST00000476950.5 | hg19 | chr21 | 38,597,773 | 38,639,647 | 41,875 |
| ENST00000398998.1 | hg19 | chr21 | 38,597,845 | 38,639,833 | 41,989 |
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