chr13:48955538:C>T Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,955,538-48,955,538
hg38 chr13:48,381,402-48,381,402 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1654C>T NP_000312.2:p.Arg552Ter
Ensemble ENST00000267163.6:c.1654C>T ENST00000267163.6:p.Arg552Ter
ENST00000650461.1:c.1654C>T ENST00000650461.1:p.Arg552Ter
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 COSM887 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of gallbladder not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-05-20 criteria provided, multiple submitters, no conflicts retinoblastoma germline somatic Detail
Pathogenic 2017-09-15 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic no assertion criteria provided Malignant tumor of urinary bladder 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.1654C>T (p.Arg552Ter) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) AND Malignant tumor of urinary bladder 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
rs121913303 dbSNP
Genome
hg19
Position
chr13:48,955,538-48,955,538
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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