LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003430)
Patient ID #298/2014
Phenotype bilateral rb
Mut. origin mosaicism
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Italy:Siena
# Reported 1
Published published
Remarks Loss of pocket B domain and C-termus
Submitter Alessandra Renieri

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.49030490G>C
cDNA change c.1960+5G>C
Type Substitution
Exon IVS19
RNA change r.1815_1960del
Protein p.(Met605Ilefs*14)
RBWiki -
expected consequence type splice
DB-ID RB1_01265
originated_in germline

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
?/? Maternal (confirmed) g.49030490G>C c.1960+5G>C Substitution IVS19 r.1815_1960del p.(Met605Ilefs*14) - splice RB1_01265 germline

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