chr16:88382959:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,449,367-88,507,165 |
| hg38 | chr16:88,382,959-88,440,757 |
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 |
|---|---|---|---|---|---|
| 0.122 | Corneal Diseases | NA | CTD_human,GAD | Detail | |
| <0.001 | Hepatic Vein Thrombosis | NA | BeFree | Detail | |
| 0.120 | Joint Instability | NA | CTD_human | Detail | |
| 0.001 | keratoconus | Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoco... | BeFree | 24895405 | Detail |
| 0.001 | keratoconus | Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analys... | BeFree | 25564447 | Detail |
| 0.120 | Skin Abnormalities | NA | CTD_human | Detail | |
| 0.242 | Ehlers-Danlos syndrome 6B | Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes ... | BeFree,CLINVAR,CTD_human | 24895405 | Detail |
| 0.242 | Ehlers-Danlos syndrome 6B | Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analys... | BeFree,CLINVAR,CTD_human | 25564447 | Detail |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| <0.001 | Glaucoma, Primary Open Angle | Single SNPs in the MYOC, COL8A2, COL1A1 and ZNF469 gene regions showed marginal ... | BeFree | 25669751 | Detail |
| 0.002 | Blind Vision | NA | GAD | Detail | |
| <0.001 | Budd-Chiari syndrome | NA | BeFree | Detail | |
| <0.001 | Corneal thinning | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. | DisGeNET | Detail |
| Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 va... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle co... | DisGeNET | Detail |
| Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 va... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Single SNPs in the MYOC, COL8A2, COL1A1 and ZNF469 gene regions showed marginal associations with PO... | 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
- hg38
- Position
- chr16:88,382,959-88,440,757
- Variant Type
- snv
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