chr4:104079848:C>A Detail (hg19) (CENPE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:104,079,848-104,079,848 |
| hg38 | chr4:103,158,691-103,158,691 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001813.2:c.2797G>T | NP_001804.2:p.Asp933Tyr |
| NM_001286734.1:c.2722G>T | NP_001273663.1:p.Asp908Tyr | |
| Ensemble | ENST00000265148.9:c.2797G>T | ENST00000265148.9:p.Asp933Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Microcephaly 13, primary, autosomal recessive | Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcep... | UNIPROT | 24748105 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwa... | 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
- -
- Genome
- hg19
- Position
- chr4:104,079,848-104,079,848
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120870
- Allele Counts in All Race (ExAC)
- 42
- Heterozygous Counts in All Race (ExAC)
- 42
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.474807644576818E-4
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