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 (#0000503)
Patient ID	not provided
Phenotype	-
Mut. origin	-
Tissue	nd
Template	DNA
tumor-genotype	-
family history	-
Reference	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported	1
Published	published
Remarks	-

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
g-position	g.56854G>A
cDNA change	c.609G>A (View in UCSC Genome Browser, Ensembl)
Type	substitution
Exon	07_ex
RNA change	altered splicing
Protein	-
RBWiki	-
expected consequence type	splice
DB-ID	RB1_00689
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.56854G>A

substitution

07_ex

altered splicing

-

-

splice

RB1_00689

-

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