chr13:48463835:G>A Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,037,971-49,037,971 View the variant detail on this assembly version.
hg38 chr13:48,463,835-48,463,835

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.2211G>A NP_000312.2:p.Glu737=
Ensemble ENST00000267163.6:c.2211G>A ENST00000267163.6:p.Glu737=
ENST00000650461.1:c.2211G>A ENST00000650461.1:p.Glu737=
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 COSM4990383 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-10-01 no assertion criteria provided retinoblastoma germline Detail
Pathogenic 2023-02-03 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.2211G>A (p.Glu737=) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.2211G>A (p.Glu737=) 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
rs587776787 dbSNP
Genome
hg38
Position
chr13:48,463,835-48,463,835
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser