chr17:38974369:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:38,974,369-38,978,866 |
| hg38 | chr17:40,818,117-40,822,614 |
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 |
|---|---|---|---|---|---|
| 0.126 | squamous cell carcinoma | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | Exfoliative dermatitis | NA | BeFree | Detail | |
| 0.120 | contact dermatitis | NA | CTD_human | Detail | |
| <0.001 | dermoid cyst | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Ichthyoses | Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to hetero... | BeFree | 24626314 | Detail |
| <0.001 | Congenital ichthyosis | Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to hetero... | BeFree | 24626314 | Detail |
| <0.001 | Keratoderma, Palmoplantar, Diffuse | NA | BeFree | Detail | |
| 0.002 | palmoplantar keratosis | NA | BeFree | Detail | |
| 0.003 | Lyme disease | NA | LHGDN | Detail | |
| 0.002 | Dermatologic disorders | NA | BeFree | Detail | |
| <0.001 | Skin Diseases, Genetic | Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative m... | BeFree | 25210931 | Detail |
| 0.120 | Skin Neoplasms | NA | CTD_human | Detail | |
| 0.003 | teratoma | NA | LHGDN | Detail | |
| 0.497 | Hyperkeratosis, Epidermolytic | NA | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,UNIPROT | Detail | |
| <0.001 | epidermolysis bullosa simplex | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| 0.120 | Arsenic Poisoning | NA | CTD_human | Detail | |
| <0.001 | NEVUS, EPIDERMAL (disorder) | NA | BeFree | Detail | |
| 0.008 | Epidermolytic palmoplantar keratoderma of Vorner | NA | BeFree | Detail | |
| <0.001 | Penile warts | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Spots on skin | We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis... | BeFree | 25774499 | Detail |
| 0.001 | Hyperkeratosis | NA | BeFree | Detail | |
| 0.361 | Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | NA | BeFree,CTD_human,ORPHANET,UNIPROT | Detail | |
| 0.003 | liver carcinoma | NA | LHGDN | Detail | |
| 0.241 | Congenital reticular ichthyosiform erythroderma | Early immunopathological diagnosis of ichthyosis with confetti in two sporadic c... | BeFree,CTD_human,ORPHANET | 24626314 | Detail |
| 0.241 | Congenital reticular ichthyosiform erythroderma | The phenotypic and genotypic spectra of ichthyosis with confetti plus novel gene... | BeFree,CTD_human,ORPHANET | 25210931 | Detail |
| 0.241 | Congenital reticular ichthyosiform erythroderma | Because reversion is not observed with other disease-causing keratin mutations, ... | BeFree,CTD_human,ORPHANET | 25774499 | Detail |
| <0.001 | Bloom syndrome | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in ... | DisGeNET | Detail |
| Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutati... | DisGeNET | Detail |
| The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the... | DisGeNET | Detail |
| Because reversion is not observed with other disease-causing keratin mutations, the results of this ... | 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
- chr17:38,974,369-38,978,866
- Variant Type
- snv
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