RB1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

RB1 (RB transcriptional corepressor 1)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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RB1 gene homepage

General information
Gene symbol	RB1
Gene name	RB transcriptional corepressor 1
Chromosome	13
Chromosomal band	q14.2
Imprinted	Unknown
Genomic reference	LRG_517
Transcript reference	NM_000321.2
Associated with diseases	RB1
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	413
Unique public DNA variants reported	95
Individuals with public variants	308
Hidden variants	0
Date created	May 20, 2020
Date last updated	August 31, 2020
Version	RB1:200831

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	9884
Entrez Gene	5925
PubMed articles	RB1
OMIM - Gene	614041
OMIM - Diseases	RB1 (Retinoblastoma)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000183	13	retinoblastoma 1	NM_000321.2	NP_000312.2	413

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