LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000057)
Patient ID RB403
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history familial
Reference Blanquet et al., 1995
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.73799del
cDNA change c.1262del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 13_ex
RNA change -
Protein p.Asp421Valfs*2
RBWiki -
expected consequence type frameshift
DB-ID RB1_00091
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.73799del c.1262del deletion 13_ex - p.Asp421Valfs*2 - frameshift RB1_00091 unknown

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