chr13:48380182:ACA> Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,954,318-48,954,320 
hg38 chr13:48,380,182-48,380,184

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1439_1441delACA NP_000312.2:p.Asn480del
Ensemble ENST00000267163.6:c.1439_1441delACA ENST00000267163.6:p.Asn480del
ENST00000650461.1:c.1439_1441delACA ENST00000650461.1:p.Asn480del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.500 retinoblastoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs587776788 dbSNP
Genome
hg38
Position
chr13:48,380,182-48,380,184
Variant Type
snv
Reference Allele
ACA
Alternative Allele
-
Genome browser