LOVD - Variant listings for RB1

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Patient data (#0002404)
Patient ID F2; pt# 2
Phenotype unilateral rb/retinoma
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Abouzeid et al. (2009), Mol Vis.;15:771-7
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2196G>A
cDNA change c.137G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Arg46Lys/splice
RBWiki Arg46Lys/splice
expected consequence type missense-splice
DB-ID RB1_00372
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.2196G>A c.137G>A substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 -

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