chr5:70263993:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:70,263,993-70,321,166 |
| hg38 | chr5:70,968,166-71,025,339 |
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 |
|---|---|---|---|---|---|
| 0.080 | brain ischemia | NA | RGD | Detail | |
| <0.001 | Atrial Septal Defects | NA | BeFree | Detail | |
| <0.001 | Hepatitis, Alcoholic | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| 0.003 | leukemia | NA | LHGDN | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.003 | multiple sclerosis | NA | LHGDN | Detail | |
| 0.003 | muscular atrophy | NA | BeFree,LHGDN | Detail | |
| 0.034 | spinal muscular atrophy | Association of copy numbers of survival motor neuron gene 2 and neuronal apoptos... | BeFree,GAD,LHGDN | 25330799 | Detail |
| 0.034 | spinal muscular atrophy | Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese pat... | BeFree,GAD,LHGDN | 25888055 | Detail |
| 0.121 | HMN (Hereditary Motor Neuropathy) Proximal Type I | NA | BeFree,ORPHANET | Detail | |
| 0.120 | juvenile spinal muscular atrophy | NA | ORPHANET | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.120 | Muscular Atrophy, Spinal, Type II | NA | ORPHANET | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.005 | Spinal Muscular Atrophies of Childhood | NA | GAD,LHGDN | Detail | |
| <0.001 | Inflammatory disorder | NA | BeFree | Detail | |
| 0.003 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| 0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| 0.003 | Fabry disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | Arthrogryposis | NA | BeFree | Detail | |
| <0.001 | Bacterial Infections | NA | BeFree | 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 |
| Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protei... | DisGeNET | Detail |
| Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu... | 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 |
| 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
- chr5:70,263,993-70,321,166
- Variant Type
- snv
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