LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001762)
Patient ID Fam797
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference not reported, BL Gallie - Toronto
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.59738_59763del
cDNA change c.806_831del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 08_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_00879
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.59738_59763del c.806_831del deletion 08_ex - - - frameshift RB1_00879 -

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