LOVD - Variant listings for RB1

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Patient data (#0001768)
Patient ID Fam103
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history isolated
Reference not reported, BL Gallie - Toronto
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.45855dup
cDNA change c.596dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 06_ex
RNA change -
Protein p.(Leu199Phefs*4)
RBWiki -
expected consequence type frameshift
DB-ID RB1_00887
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.45855dup c.596dup insertion 06_ex - p.(Leu199Phefs*4) - frameshift RB1_00887 unknown

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