LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000785)
Patient ID not provided
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference Houdayer et al. (2004) Hum Mutat 23(2): 193-202.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.2187dup
cDNA change c.128dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 01_ex
RNA change -
Protein p.Leu44Serfs*5
RBWiki -
expected consequence type frameshift
DB-ID RB1_00490
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.2187dup c.128dup insertion 01_ex - p.Leu44Serfs*5 - frameshift RB1_00490 unknown

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