LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002213)
Patient ID 30
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Abouzeid et al. (2007) Mol Vis 13: 1740
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.2179_2183dup
cDNA change c.120_124dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 01_ex
RNA change -
Protein p.Leu42Argfs*25
RBWiki -
expected consequence type frameshift
DB-ID RB1_01202
originated_in unknown

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/+ Unknown g.2179_2183dup c.120_124dup insertion 01_ex - p.Leu42Argfs*25 - frameshift RB1_01202 unknown

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