chr13:48367604:G>A Detail (hg38) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,941,740-48,941,740 View the variant detail on this assembly version. |
hg38 | chr13:48,367,604-48,367,604 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.1049+1G>A | |
Ensemble | ENST00000267163.6:c.1049+1G>A | |
ENST00000650461.1:c.1049+1G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.1049+1G>A AND Retinoblastoma | ClinVar | Detail |
NM_000321.3(RB1):c.1049+1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587776782 dbSNP
- Genome
- hg38
- Position
- chr13:48,367,604-48,367,604
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser