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 (#0002464)
Patient ID	Case no.1
Phenotype	other cancer
Mut. origin	somatic
Tissue	tumor
Template	RNA
tumor-genotype	unknown
family history	unknown
Reference	Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5.
# Reported	1
Published	published
Remarks	bladder cancer

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
g-position	g.174384_17436del
cDNA change	c.2686_2688del (View in UCSC Genome Browser, Ensembl)
Type	Deletion
Exon	26_ex
RNA change	-
Protein	p.Lys896del & p.Phe897Ile
RBWiki	-
expected consequence type	in-frame
DB-ID	RB1_01400
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.174384_17436del

Deletion

26_ex

-

p.Lys896del & p.Phe897Ile

-

in-frame

RB1_01400

-

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