chr13:48465238:C>T Detail (hg38) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:49,039,374-49,039,374 View the variant detail on this assembly version. |
| hg38 | chr13:48,465,238-48,465,238 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.2359C>T | NP_000312.2:p.Arg787Ter |
| Ensemble | ENST00000267163.6:c.2359C>T | ENST00000267163.6:p.Arg787Ter |
| ENST00000650461.1:c.2359C>T | ENST00000650461.1:p.Arg787Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/08/18 | hereditary retinoblastoma |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/08/18 | retina |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2024-05-20 | criteria provided, conflicting interpretations | retinoblastoma |
de novo
germline
|
Detail |
|
Pathogenic
|
2019-04-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-11-17 | criteria provided, multiple submitters, no conflicts | not provided |
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.2359C>T (p.Arg787Ter) AND Retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) AND not provided | 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
- rs137853293 dbSNP
- Genome
- hg38
- Position
- chr13:48,465,238-48,465,238
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser