chr13:48381414:C>T Detail (hg38) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,955,550-48,955,550 View the variant detail on this assembly version. |
| hg38 | chr13:48,381,414-48,381,414 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.1666C>T | NP_000312.2:p.Arg556Ter |
| Ensemble | ENST00000267163.6:c.1666C>T | ENST00000267163.6:p.Arg556Ter |
| ENST00000650461.1:c.1666C>T | ENST00000650461.1:p.Arg556Ter |
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 |
|---|---|---|---|---|---|
Pathogenic
|
1997-01-01 | no assertion criteria provided | trilateral retinoblastoma |
germline
|
Detail |
|
Pathogenic
|
2024-05-20 | criteria provided, multiple submitters, no conflicts | retinoblastoma |
germline
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm |
somatic
|
Detail |
|
Pathogenic
|
2021-11-24 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
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.1666C>T (p.Arg556Ter) AND Trilateral retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) AND Retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) AND Neoplasm | ClinVar | Detail |
| NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NA | 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
- -
- dbSNP
- rs121913304 dbSNP
- Genome
- hg38
- Position
- chr13:48,381,414-48,381,414
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser