chr13:48379624:C>T Detail (hg38) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,953,760-48,953,760 View the variant detail on this assembly version. |
| hg38 | chr13:48,379,624-48,379,624 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.1363C>T | NP_000312.2:p.Arg455Ter |
| Ensemble | ENST00000267163.6:c.1363C>T | ENST00000267163.6:p.Arg455Ter |
| ENST00000650461.1:c.1363C>T | ENST00000650461.1:p.Arg455Ter |
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
|
2024-05-20 | criteria provided, multiple submitters, no conflicts | retinoblastoma |
germline
somatic
|
Detail |
|
Pathogenic
|
2021-07-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-04-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-12-21 | criteria provided, single submitter |
de novo
|
Detail | |
|
Pathogenic
|
no assertion criteria provided | Malignant tumor of urinary bladder |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.500 | retinoblastoma | NA | CLINVAR | Detail | |
| 0.500 | retinoblastoma | A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese ret... | BeFree | 20059380 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) AND Retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) AND not provided | ClinVar | Detail |
| NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) AND See cases | ClinVar | Detail |
| NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) AND Malignant tumor of urinary bladder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree... | 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
- rs121913302 dbSNP
- Genome
- hg38
- Position
- chr13:48,379,624-48,379,624
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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