chr13:48303966:GGAACCCCCGGCACCGCCGCCGCCGC> Detail (hg38) (RB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:48,878,102-48,878,127 |
hg38 | chr13:48,303,966-48,303,991 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000321.2:c.54_79delGGAACCCCCGGCACCGCCGCCGCCGC | NP_000312.2:p.Glu19ProfsTer3 |
Ensemble | ENST00000267163.6:c.54_79delGGAACCCCCGGCACCGCCGCCGCCGC | ENST00000267163.6:p.Glu19ProfsTer3 |
ENST00000646097.1:c.54_79delGGAACCCCCGGCACCGCCGCCGCCGC | ENST00000646097.1:p.Glu19ProfsTer3 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.54_79del (p.Glu19fs) AND not provided | ClinVar | Detail |
NM_000321.3(RB1):c.54_79del (p.Glu19fs) AND Hereditary cancer-predisposing syndrome | 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
- rs727504120 dbSNP
- Genome
- hg38
- Position
- chr13:48,303,966-48,303,991
- Variant Type
- snv
- Reference Allele
- GGAACCCCCGGCACCGCCGCCGCCGC
- Alternative Allele
- -
Genome browser