chr15:43018588:G>A Detail (hg19) (CDAN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:43,018,588-43,018,588 |
| hg38 | chr15:42,726,390-42,726,390 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138477.2:c.3124C>T | NP_612486.2:p.Arg1042Trp |
| Ensemble | ENST00000356231.4:c.3124C>T | ENST00000356231.4:p.Arg1042Trp |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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 |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
anemia, congenital dyserythropoietic |
germline
|
MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2002-12-01 | no assertion criteria provided | Congenital dyserythropoietic anemia, type I |
germline
|
Detail |
|
Pathogenic
|
2019-04-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-05-04 | criteria provided, single submitter | Anemia, congenital dyserythropoietic, type 1a |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | angioid streaks | Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retina... | BeFree | 18081704 | Detail |
| 0.362 | Congenital dyserythropoietic anemia, type I | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) AND Congenital dyserythropoietic anemia, type I | ClinVar | Detail |
| NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) AND not provided | ClinVar | Detail |
| NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) AND Anemia, congenital dyserythropoietic, type 1a | ClinVar | Detail |
| Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (h... | DisGeNET | 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
- rs80338697 dbSNP
- Genome
- hg19
- Position
- chr15:43,018,588-43,018,588
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 3164
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.160556257901391E-4
- Chromosome Counts in All Race (ExAC)
- 46298
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.3198410298501014E-5
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