chr13:49037866:G>C Detail (hg19) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:49,037,866-49,037,866 |
hg38 | chr13:48,463,730-48,463,730 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.2107-1G>C | |
Ensemble | ENST00000713856.1:c.2107-1G>C | |
ENST00000650461.1:c.2107-1G>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-09-16 | no assertion criteria provided | retinoblastoma |
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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.2107-1G>C AND Retinoblastoma | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587778860 dbSNP
- Genome
- hg19
- Position
- chr13:49,037,866-49,037,866
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser