chr13:48951171:G>T Detail (hg19) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,951,171-48,951,171 |
hg38 | chr13:48,377,035-48,377,035 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.1332+1G>T | |
Ensemble | ENST00000267163.6:c.1332+1G>T | |
ENST00000650461.1:c.1332+1G>T |
Summary
MGeND
Clinical significance |
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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 |
---|---|---|---|---|---|---|---|---|---|
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2020/09/07 | retina |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/09/07 | hereditary retinoblastoma |
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MGS000029
(TMGS000133) |
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, single submitter | retinoblastoma |
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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.1332+1G>T AND Retinoblastoma | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587778846 dbSNP
- Genome
- hg19
- Position
- chr13:48,951,171-48,951,171
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser