rb1-lsdb
retinoblastoma 1 (RB1)
LOVD v.2.0 Build 34 [
Current LOVD status
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Curators:
Dietmar Lohmann
and
Larissa Novakovic
Fill in at least one value in the form below to return the number of entries in the database matching your search terms, including non-public entries.
Sequence variant data search terms
g-position
DNA change (HGVS format)
Type of variant (DNA level)
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
Exon
RNA change (HGVS format)
Protein change (HGVS format)
RBWiki
expected conssequence type
unknown
missense
nonsense
silent
frameshift
in-frame
splice
variant
promoter
ID
variant_origin
-- select --
germline
somatic
unknown
Variant settings search terms
Variant allele
-- select --
Paternal (confirmed)
Paternal (inferred)
Maternal (confirmed)
Maternal (inferred)
Parent #1
Parent #2
Pathogenicity
-- select --
-/-
-/-?
-/?
-/+?
-/+
-?/-
-?/-?
-?/?
-?/+?
-?/+
?/-
?/-?
?/?
?/+?
?/+
+?/-
+?/-?
+?/?
+?/+?
+?/+
+/-
+/-?
+/?
+/+?
+/+
Variant status
-- select --
Submitted
Non public
Marked
Public
Patient data search terms
Patient ID
Phenotype
-- select --
retinoblastoma
unilateral rb
bilateral rb
no cancer
other cancer
Origin of mutation
-- select --
unknown
germline
somatic
mosaicism
Tissue
Detection template
DNA
RNA
Protein
tumor-genotype
-- select --
heterozygous
hemi/homozygous
LOH
unknown
family history
-- select --
familial
isolated
familial low penetrance
unknown
Reference
Times reported
Published
-- select --
published
unpublished
Remarks
Please help to improve the quality of the data and report any error that you may find!
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Leiden University Medical Center