LOVD - Variant listings for RB1

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Patient data (#0001847)
Patient ID Fam163
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Published unpublished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 Unknown
g-position g.61737dup
cDNA change c.869dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 09_ex
RNA change -
Protein -
RBWiki -
expected consequence type -
DB-ID RB1_00955
originated_in -

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.61737dup c.869dup insertion 09_ex - - - - RB1_00955 -

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