LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002217)
Patient ID 17
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Abouzeid et al. (2007) Mol Vis 13: 1740
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.78253del
cDNA change c.1669del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 17_ex
RNA change -
Protein p.Ile557Serfs*54
RBWiki -
expected consequence type frameshift
DB-ID RB1_01227
originated_in unknown

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.78253del c.1669del deletion 17_ex - p.Ile557Serfs*54 - frameshift RB1_01227 unknown

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