LOVD - Variant listings for RB1

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Patient data (#0000666)
Patient ID Fam384
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history not reported
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1854_1871del
cDNA change c.-206_-189del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 00_up
RNA change -
Protein -
RBWiki -
expected consequence type -
DB-ID RB1_00927
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.1854_1871del c.-206_-189del deletion 00_up - - - - RB1_00927 -

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