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 (#0002257)
Patient ID	case 5
Phenotype	bilateral rb
Mut. origin	germline
Tissue	blood
Template	DNA
tumor-genotype	-
family history	isolated
Reference	Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166
# Reported	1
Published	published
Remarks	-

Variant data
Allele	Unknown
Reported pathogenicity	Unknown
Concluded pathogenicity	Unknown
g-position	g.77058T>C
cDNA change	c.1479T>C (View in UCSC Genome Browser, Ensembl)
Type	substitution
Exon	16_ex
RNA change	-
Protein	p.Val493Val
RBWiki	-
expected consequence type	-
DB-ID	RB1_01329
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.77058T>C

substitution

16_ex

-

p.Val493Val

-

-

RB1_01329

-

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