LOVD - Variant listings for RB1

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Patient data (#0002542)
Patient ID nd
Phenotype unilateral rb
Mut. origin -
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published -
Remarks Entry in RetinoblastomaWiki

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
g-position g.15009A>G
cDNA change c.1707A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 18_ex
RNA change -
Protein p.Leu569Leu
RBWiki [Leu569Leu]
expected consequence type unknown
DB-ID RB1_01454
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.15009A>G c.1707A>G Substitution 18_ex - p.Leu569Leu [Leu569Leu] unknown RB1_01454 -

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