LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002322)
Patient ID fRB17
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Najera et al. (2001) Med Clin (Barc) 116: 365
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.153211T>G
cDNA change c.1818T>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 19_ex
RNA change -
Protein p.Tyr606X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01195
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.153211T>G c.1818T>G substitution 19_ex - p.Tyr606X - nonsense RB1_01195 -

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