chr13:48380199:TT> Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,954,335-48,954,336 
hg38 chr13:48,380,199-48,380,200

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1456_1457delTT NP_000312.2:p.Leu486IlefsTer6
Ensemble ENST00000267163.6:c.1456_1457delTT ENST00000267163.6:p.Leu486IlefsTer6
ENST00000650461.1:c.1456_1457delTT ENST00000650461.1:p.Leu486IlefsTer6
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 COSM1942347 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-14 criteria provided, single submitter retinoblastoma germline somatic 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.1456_1457del (p.Leu486fs) AND Retinoblastoma 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
rs587778832 dbSNP
Genome
hg38
Position
chr13:48,380,199-48,380,200
Variant Type
snv
Reference Allele
TT
Alternative Allele
-
Genome browser