chr13:48380096:ACTTTTAGTAAAAAATTTTTT> Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,954,232-48,954,252 
hg38 chr13:48,380,096-48,380,116

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT
Ensemble ENST00000267163.6:c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT
ENST00000650461.1:c.1421+12_1421+32delACTTTTAGTAAAAAATTTTTT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 2008-12-01 no assertion criteria provided retinoblastoma germline Detail
Likely pathogenic 2017-01-24 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.1421+12_1421+32del AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.1421+12_1421+32del AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587781256 dbSNP
Genome
hg38
Position
chr13:48,380,096-48,380,116
Variant Type
snv
Reference Allele
ACTTTTAGTAAAAAATTTTTT
Alternative Allele
-
Genome browser