LOVD - Variant listings for RB1

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Patient data (#0002440)
Patient ID Fam1187
Phenotype unilateral rb
Mut. origin -
Tissue blood + tumor
Template DNA
tumor-genotype heterozygous
family history isolated
Reference not reported, BL Gallie - Toronto
# Reported 1
Published unpublished
Remarks Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
g-position g.2104_2112del
cDNA change c.45_53del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 01_ex
RNA change -
Protein p.Ala16_Ala18del
RBWiki Ala16_Ala18del
expected consequence type in-frame
DB-ID RB1_00957
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.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 -

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