chr2:73828916:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:74,056,043-74,100,779 |
| hg38 | chr2:73,828,916-73,873,652 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Developmental Disabilities | NA | CTD_human | Detail | |
| 0.120 | epilepsy | NA | CTD_human | Detail | |
| 0.120 | microcephaly | NA | CTD_human | Detail | |
| <0.001 | Capillary malformation (disorder) | NA | BeFree | Detail | |
| 0.120 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) | NA | CTD_human | Detail | |
| <0.001 | camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Herein, we describe an Arab family of two siblings with classic features of MIC-... | BeFree | 25692795 | Detail |
| <0.001 | CDAGS SYNDROME | Herein, we describe an Arab family of two siblings with classic features of MIC-... | BeFree | 25692795 | Detail |
| <0.001 | alopecia areata | Herein, we describe an Arab family of two siblings with classic features of MIC-... | BeFree | 25692795 | Detail |
| 0.120 | Brain Diseases | NA | CTD_human | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Herein, we describe an Arab family of two siblings with classic features of MIC-CAP syndrome that ha... | DisGeNET | Detail |
| Herein, we describe an Arab family of two siblings with classic features of MIC-CAP syndrome that ha... | DisGeNET | Detail |
| Herein, we describe an Arab family of two siblings with classic features of MIC-CAP syndrome that ha... | 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
- -
- Genome
- hg38
- Position
- chr2:73,828,916-73,873,652
- Variant Type
- snv
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