chr21:44589118:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:44,589,118-44,592,915 |
| hg38 | chr21:43,169,008-43,172,805 |
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 |
|---|---|---|---|---|---|
| 0.003 | Congenital ocular coloboma (disorder) | NA | LHGDN | Detail | |
| 0.002 | Congenital cataract | A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene... | BeFree | 25729975 | Detail |
| 0.003 | Corneal Opacity | NA | LHGDN | Detail | |
| 0.080 | Galactosemias | NA | RGD | Detail | |
| 0.080 | ocular hypertension | NA | RGD | Detail | |
| 0.120 | Age-related cataract | NA | BeFree,GWASCAT | Detail | |
| 0.120 | uveitis | NA | CTD_human | Detail | |
| <0.001 | Coloboma of iris | NA | BeFree | Detail | |
| 0.120 | Congenital total cataract | NA | ORPHANET | Detail | |
| <0.001 | Microcornea | NA | BeFree | Detail | |
| <0.001 | Congenital coloboma of iris | NA | BeFree | Detail | |
| 0.121 | Nuclear cataract | The findings were further supported by up-regulation and down-regulation of KCNA... | BeFree,ORPHANET | 24951543 | Detail |
| 0.121 | Nuclear non-senile cataract | The findings were further supported by up-regulation and down-regulation of KCNA... | BeFree,ORPHANET | 24951543 | Detail |
| <0.001 | Lens Opacities | NA | BeFree | Detail | |
| <0.001 | Cataract, Age-Related Nuclear | NA | BeFree | Detail | |
| 0.120 | CATARACT, ANTERIOR POLAR | NA | ORPHANET | Detail | |
| <0.001 | CATARACT, MARNER TYPE | A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese ped... | BeFree | 25729975 | Detail |
| 0.120 | Cataract microcornea syndrome | NA | ORPHANET | Detail | |
| <0.001 | AIDS related complex | NA | BeFree | Detail | |
| 0.120 | Autoimmune Diseases | NA | CTD_human | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The findings were further supported by up-regulation and down-regulation of KCNAB1 and CRYAA in huma... | DisGeNET | Detail |
| The findings were further supported by up-regulation and down-regulation of KCNAB1 and CRYAA in huma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring auto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- hg19
- Position
- chr21:44,589,118-44,592,915
- Variant Type
- snv
Genome browser