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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 614041 OMIM
HGNC 9884 HGNC
Ensembl ENSG00000139687 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-03-19 criteria provided, single submitter not provided germline Detail
Pathogenic 2020-03-24 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.500 retinoblastoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
-
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