chr8:105318438:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:106,330,666-106,816,767 |
| hg38 | chr8:105,318,438-105,804,539 |
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 |
|---|---|---|---|---|---|
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| <0.001 | diaphragmatic eventration | NA | BeFree | Detail | |
| <0.001 | gonadal dysgenesis | NA | BeFree | Detail | |
| <0.001 | Gonadal Dysgenesis, 46,XY | NA | BeFree | Detail | |
| <0.001 | congenital heart defects | NA | BeFree | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| <0.001 | Ventricular Septal Defects | NA | BeFree | Detail | |
| 0.123 | Diaphragmatic hernia | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | Myelodysplasia | NA | BeFree | Detail | |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| 0.562 | tetralogy of Fallot | In this report, we screened a larger CTD population, which comprised 145 tetralo... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25025186 | Detail |
| <0.001 | Thecoma | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Turner syndrome | NA | BeFree | Detail | |
| <0.001 | congenital heart disease | NA | BeFree | Detail | |
| <0.001 | Mesothelioma, Cystic | Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in mu... | BeFree | 25484136 | Detail |
| <0.001 | Renal Cell Dysplasia | NA | BeFree | Detail | |
| 0.202 | congenital diaphragmatic hernia | Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital di... | BeFree,MGD,ORPHANET | 24702427 | Detail |
| 0.080 | tricuspid atresia | NA | BeFree,MGD | Detail | |
| <0.001 | Pallister-Killian syndrome | Among the differentially expressed genes, we identified several genes whose mise... | BeFree | 25329894 | Detail |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| 0.120 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | NA | UNIPROT | Detail | |
| 0.120 | Venous thromboembolism | NA | GWASCAT | Detail | |
| <0.001 | 46, XY Disorders of Sex Development | NA | BeFree | Detail | |
| 0.003 | myelodysplastic syndrome | NA | LHGDN | Detail | |
| <0.001 | Renal dysplasia | NA | BeFree | Detail | |
| 0.120 | 46,XY sex reversal 9 | NA | UNIPROT | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel TNS3-MAP3K3 and ZFPM2-ELF5 fusion genes identified by RNA sequencing in multicystic mesothelio... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Among the differentially expressed genes, we identified several genes whose misexpression may be ass... | 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 |
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
- chr8:105,318,438-105,804,539
- Variant Type
- snv
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