LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002411)
Patient ID S; pt# 9
Phenotype unilateral rb/retinoma
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference -
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.73843C>T
cDNA change c.1306C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 13_ex
RNA change -
Protein p.Gln436X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00309
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.73843C>T c.1306C>T substitution 13_ex - p.Gln436X - nonsense RB1_00309 -

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