chr13:48877851:G>A Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,877,851-48,877,851
hg38 chr13:48,303,715-48,303,715 View the variant detail on this assembly version.

HGVS

[No Data.]
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-05-20 criteria provided, multiple submitters, no conflicts retinoblastoma germline Detail
Pathogenic 2019-01-24 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.-198G>A AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.-198G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs387906521 dbSNP
Genome
hg19
Position
chr13:48,877,851-48,877,851
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser