chr15:42731206:C>T Detail (hg38) (CDAN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:43,023,404-43,023,404 View the variant detail on this assembly version. |
| hg38 | chr15:42,731,206-42,731,206 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138477.2:c.1860+5G>A | |
| Ensemble | ENST00000356231.4:c.1860+5G>A |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2005-08-01 | no assertion criteria provided | Congenital dyserythropoietic anemia, type I |
germline
|
Detail |
|
Uncertain significance
|
2021-06-15 | criteria provided, single submitter | Anemia, congenital dyserythropoietic, type 1a |
germline
|
Detail |
|
Uncertain significance
|
2022-08-29 | criteria provided, multiple submitters, no conflicts | not provided |
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.1860+5G>A AND Congenital dyserythropoietic anemia, type I | ClinVar | Detail |
| NM_138477.4(CDAN1):c.1860+5G>A AND Anemia, congenital dyserythropoietic, type 1a | ClinVar | Detail |
| NM_138477.4(CDAN1):c.1860+5G>A AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs113313967 dbSNP
- Genome
- hg38
- Position
- chr15:42,731,206-42,731,206
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 4
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.6221400508435407E-4
- Chromosome Counts in All Race (ExAC)
- 121392
- Allele Counts in All Race (ExAC)
- 35
- Heterozygous Counts in All Race (ExAC)
- 35
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.8832212995914065E-4
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