LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003252)
Patient ID fam-no_20072285
Phenotype retinoblastoma
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history isolated
Reference Germany:Essen
# Reported 1
Published published
Remarks No RNA available
Predicted: alters the acceptor splice site of intron 8, leading to a skip of exon 9
Submitter Larissa Novakovic

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
g-position -
cDNA change c.862-2del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 08_in
RNA change -
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01971
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
+/? Unknown - c.862-2del Deletion 08_in - - - splice RB1_01971 germline

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