chr15:43027315:AAC> Detail (hg19) (CDAN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:43,027,315-43,027,317 |
| hg38 | chr15:42,735,117-42,735,119 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138477.2:c.1117_1119delGTT | NP_612486.2:p.Val373del |
| Ensemble | ENST00000356231.4:c.1117_1119delGTT | ENST00000356231.4:p.Val373del |
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
|
2006-06-15 | no assertion criteria provided | Congenital dyserythropoietic anemia, type I |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.362 | Congenital dyserythropoietic anemia, type I | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) AND Congenital dyserythropoietic anemia, type I | 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
- rs120074169 dbSNP
- Genome
- hg19
- Position
- chr15:43,027,315-43,027,317
- Variant Type
- snv
- Reference Allele
- AAC
- Alternative Allele
- -
Genome browser