chr13:48368537:CA> Detail (hg38) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,942,673-48,942,674 |
hg38 | chr13:48,368,537-48,368,538 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.1060_1061delCA | NP_000312.2:p.Gln354GlufsTer7 |
Ensemble | ENST00000267163.6:c.1060_1061delCA | ENST00000267163.6:p.Gln354GlufsTer7 |
ENST00000650461.1:c.1060_1061delCA | ENST00000650461.1:p.Gln354GlufsTer7 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.500 | retinoblastoma | NA | CLINVAR | Detail |
Annotation
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
- -
- dbSNP
- rs587778829 dbSNP
- Genome
- hg38
- Position
- chr13:48,368,537-48,368,538
- Variant Type
- snv
- Reference Allele
- CA
- Alternative Allele
- -
Genome browser