LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000058)
Patient ID RB495
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history -
Reference Blanquet et al., 1995
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.76919_76948del
cDNA change c.1420_1421+28del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 15_ex
RNA change -
Protein 477X
RBWiki -
expected consequence type frameshift
DB-ID RB1_00101
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.76919_76948del c.1420_1421+28del deletion 15_ex - 477X - frameshift RB1_00101 -

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