chrX:9693386:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:9,693,386-9,733,887 |
| hg38 | chrX:9,725,346-9,765,847 |
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 | Disorder of eye | NA | BeFree | Detail | |
| 0.003 | melanoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Nystagmus | NA | BeFree | Detail | |
| 0.019 | Albinism, Ocular | Macular optical coherence tomography findings and GPR143 mutations in patients w... | BeFree,LHGDN | 24526317 | Detail |
| 0.019 | Albinism, Ocular | We have developed a computational procedure to determine the SNPs in the 3'UTR r... | BeFree,LHGDN | 25060099 | Detail |
| <0.001 | Albinism, Oculocutaneous | NA | BeFree | Detail | |
| <0.001 | Hypopigmentation disorder | NA | BeFree | Detail | |
| <0.001 | X-Linked Infantile Nystagmus | NA | BeFree | Detail | |
| 0.010 | congenital nystagmus | NA | BeFree,LHGDN | Detail | |
| <0.001 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | NA | BeFree | Detail | |
| <0.001 | Albinism | We have developed a computational procedure to determine the SNPs in the 3'UTR r... | BeFree | 25060099 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. | DisGeNET | Detail |
| We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA... | 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
- chrX:9,693,386-9,733,887
- Variant Type
- snv
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