chr13:48953730:C>T Detail (hg19) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,953,730-48,953,730 |
hg38 | chr13:48,379,594-48,379,594 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.1333C>T | NP_000312.2:p.Arg445Ter |
Ensemble | ENST00000267163.6:c.1333C>T | ENST00000267163.6:p.Arg445Ter |
ENST00000650461.1:c.1333C>T | ENST00000650461.1:p.Arg445Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 7 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2021/07/24 | hereditary retinoblastoma |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/07/24 | retina |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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Malignant tumor of unknown origin (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Soft tissue sarcoma |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Breast cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-05-20 | criteria provided, multiple submitters, no conflicts | retinoblastoma |
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Detail |
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2021-08-05 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-12-22 | criteria provided, single submitter | bone osteosarcoma,Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma |
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Detail |
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2021-12-22 | criteria provided, single submitter | bone osteosarcoma,Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma |
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Detail |
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2021-12-22 | criteria provided, single submitter | bone osteosarcoma,Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma |
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Detail |
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2021-12-22 | criteria provided, single submitter | bone osteosarcoma,Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma |
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Detail |
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2022-06-29 | criteria provided, single submitter | not provided |
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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.1333C>T (p.Arg445Ter) AND Retinoblastoma | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) 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
- rs3092891 dbSNP
- Genome
- hg19
- Position
- chr13:48,953,730-48,953,730
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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