chr18:43481019:G>A Detail (hg19) (EPG5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:43,481,019-43,481,019 |
| hg38 | chr18:45,901,054-45,901,054 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020964.2:c.4588C>T | NP_066015.2:p.Gln1530Ter |
| Ensemble | ENST00000282041.11:c.4588C>T | ENST00000282041.11:p.Gln1530Ter |
| ENST00000696483.1:c.4588C>T | ENST00000696483.1:p.Gln1530Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2019-01-17 | criteria provided, single submitter | Vici syndrome |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.481 | Absent corpus callosum cataract immunodeficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) AND Vici syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587776939 dbSNP
- Genome
- hg19
- Position
- chr18:43,481,019-43,481,019
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser