chr13:48936995:C>T Detail (hg19) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,936,995-48,936,995 |
hg38 | chr13:48,362,859-48,362,859 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.763C>T | NP_000312.2:p.Arg255Ter |
Ensemble | ENST00000267163.6:c.763C>T | ENST00000267163.6:p.Arg255Ter |
ENST00000650461.1:c.763C>T | ENST00000650461.1:p.Arg255Ter |
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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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, multiple submitters, no conflicts | retinoblastoma |
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Detail |
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2023-07-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-10-12 | criteria provided, multiple submitters, no conflicts | 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.763C>T (p.Arg255Ter) AND Retinoblastoma | ClinVar | Detail |
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) 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
- rs587778842 dbSNP
- Genome
- hg19
- Position
- chr13:48,936,995-48,936,995
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser