chr13:49047527:G> Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,047,527-49,047,527
hg38 chr13:48,473,391-48,473,391 

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.2520+1delG
Ensemble ENST00000713858.1:c.2415+1delG
ENST00000267163.6:c.2520+1delG
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM906 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided oesophagus, unspecified 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, single submitter retinoblastoma germline somatic Detail
Pathogenic 2022-01-06 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.2520+1del AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.2520+1del AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776779 dbSNP
Genome
hg19
Position
chr13:49,047,527-49,047,527
Variant Type
snv
Reference Allele
G
Alternative Allele
-
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