Variants - rb1-lsdb - Leiden Open Variation Database

rb1-lsdb

retinoblastoma 1 (RB1)

LOVD v.2.0 Build 34 [ Current LOVD status ]
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Curators: Dietmar Lohmann and Larissa Novakovic

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0002117)
Patient ID	RB9
Phenotype	bilateral rb
Mut. origin	germline
Tissue	retinoblastoma
Template	DNA
tumor-genotype	-
family history	isolated
Reference	de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43
# Reported	1
Published	published
Remarks	-

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Pathogenic
g-position	g.150038_150047del
cDNA change	c.1736_1742del (View in UCSC Genome Browser, Ensembl)
Type	deletion
Exon	18_ex
RNA change	-
Protein	-
RBWiki	-
expected consequence type	frameshift
DB-ID	RB1_01165
originated_in	-

1 entry in RB1

Path.

Allele

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in

?/+

Unknown

g.150038_150047del

deletion

18_ex

-

-

-

frameshift

RB1_01165

-

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