chr13:49047495:G>A Detail (hg19) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:49,047,495-49,047,495 |
| hg38 | chr13:48,473,359-48,473,359 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.2490-1G>A | |
| Ensemble | ENST00000267163.6:c.2490-1G>A | |
| ENST00000650461.1:c.2490-1G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
Malignant tumor of salivary gland (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Salivary carcinoma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2013-09-16 | no assertion criteria provided | retinoblastoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.500 | retinoblastoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000321.3(RB1):c.2490-1G>A AND Retinoblastoma | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587778838 dbSNP
- Genome
- hg19
- Position
- chr13:49,047,495-49,047,495
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser