LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000979)
Patient ID not provided
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history -
Reference Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.2147G>T
cDNA change c.88G>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Glu30X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00025
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.2147G>T c.88G>T substitution 01_ex - p.Glu30X - nonsense RB1_00025 -

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