chr13:49039374:C>T Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,039,374-49,039,374
hg38 chr13:48,465,238-48,465,238 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.2359C>T NP_000312.2:p.Arg787Ter
Ensemble ENST00000267163.6:c.2359C>T ENST00000267163.6:p.Arg787Ter
ENST00000650461.1:c.2359C>T ENST00000650461.1:p.Arg787Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM23824 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Cholangiocarcinoma of biliary tract (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
Pathogenic Squamous cell carcinoma of cervix (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
Pathogenic 2020/04/20 body of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-05-20 criteria provided, conflicting interpretations retinoblastoma de novo germline Detail
Pathogenic 2019-04-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-11-17 criteria provided, multiple submitters, no conflicts not provided 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.2359C>T (p.Arg787Ter) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) AND not provided 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
rs137853293 dbSNP
Genome
hg19
Position
chr13:49,039,374-49,039,374
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser