chr13:48947629:G>A Detail (hg19) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,947,629-48,947,629 |
hg38 | chr13:48,373,493-48,373,493 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.1215+1G>A | |
Ensemble | ENST00000267163.6:c.1215+1G>A | |
ENST00000650461.1:c.1215+1G>A |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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 |
---|---|---|---|---|---|---|---|---|---|
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2020/04/20 | bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-05-20 | criteria provided, conflicting interpretations | retinoblastoma |
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Detail |
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2023-08-03 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma |
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Detail |
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2018-10-31 | criteria provided, single submitter | Malignant tumor of urinary bladder,retinoblastoma,Small cell lung carcinoma,bone osteosarcoma |
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Detail |
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2023-10-26 | criteria provided, single submitter | Malignant tumor of urinary bladder |
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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.1215+1G>A AND Retinoblastoma | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND multiple conditions | ClinVar | Detail |
NM_000321.3(RB1):c.1215+1G>A AND Malignant tumor of urinary bladder | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587776783 dbSNP
- Genome
- hg19
- Position
- chr13:48,947,629-48,947,629
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120806
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.277734549608463E-6
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