chr12:53038342:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:53,038,342-53,045,995 |
| hg38 | chr12:52,644,558-52,652,211 |
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 | contact dermatitis | NA | CTD_human | Detail | |
| <0.001 | irritable bowel syndrome | NA | BeFree | Detail | |
| 0.001 | Hyperkeratosis, Epidermolytic | NA | BeFree | Detail | |
| <0.001 | Epidermolytic palmoplantar keratoderma of Vorner | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| 0.484 | Ichthyosis bullosa of Siemens | Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 dom... | UNIPROT | 9804344 | Detail |
| 0.484 | Ichthyosis bullosa of Siemens | In the current literature, 19 IBS families with keratin 2e (K2e) mutations have ... | UNIPROT | 15949009 | Detail |
| 0.484 | Ichthyosis bullosa of Siemens | Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of... | UNIPROT | 7524919 | Detail |
| 0.484 | Ichthyosis bullosa of Siemens | A novel threonine --> proline mutation at the end of 2B rod domain in the ker... | UNIPROT | 9204966 | Detail |
| 0.484 | Ichthyosis bullosa of Siemens | New mutations in keratin 1 that cause bullous congenital ichthyosiform erythrode... | UNIPROT | 11531804 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and... | DisGeNET | Detail |
| In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despi... | DisGeNET | Detail |
| Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. | DisGeNET | Detail |
| A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ich... | DisGeNET | Detail |
| New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e t... | 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
- rs61726449 dbSNP
- Genome
- hg19
- Position
- chr12:53,038,342-53,045,995
- Variant Type
- snv
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