chr13:48381402:C>T Detail (hg38) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,955,538-48,955,538 View the variant detail on this assembly version. |
| hg38 | chr13:48,381,402-48,381,402 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000321.2:c.1654C>T | NP_000312.2:p.Arg552Ter |
| Ensemble | ENST00000267163.6:c.1654C>T | ENST00000267163.6:p.Arg552Ter |
| ENST00000650461.1:c.1654C>T | ENST00000650461.1:p.Arg552Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2018/01/25 | Uterine Sarcoma |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
Pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
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
|
2017-09-15 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) AND Retinoblastoma | ClinVar | Detail |
| NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) AND Malignant tumor of urinary bladder | 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
- rs121913303 dbSNP
- Genome
- hg38
- Position
- chr13:48,381,402-48,381,402
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser