chr13:48954198:C>T Detail (hg19) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,954,198-48,954,198 |
| hg38 | chr13:48,380,062-48,380,062 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.1399C>T | NP_000312.2:p.Arg467Ter |
| Ensemble | ENST00000713858.1:c.1399C>T | ENST00000713858.1:p.Arg467Ter |
| ENST00000713857.1:c.1399C>T | ENST00000713857.1:p.Arg467Ter |
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
|
2022-01-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-05-20 | criteria provided, multiple submitters, no conflicts | retinoblastoma |
germline
|
Detail |
|
Pathogenic
|
2018-04-09 | criteria provided, multiple submitters, no conflicts | 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.1399C>T (p.Arg467Ter) AND not provided | ClinVar | Detail |
| NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) AND Retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) 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
- rs398123331 dbSNP
- Genome
- hg19
- Position
- chr13:48,954,198-48,954,198
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser