LOVD - Variant listings for RB1

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Patient data (#0000613)
Patient ID Fam91
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.150056_150065del
cDNA change c.1754_1763del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 18_ex
RNA change -
Protein p.His585Leufs*23
RBWiki -
expected consequence type frameshift
DB-ID RB1_00673
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.150056_150065del c.1754_1763del Deletion 18_ex - p.His585Leufs*23 - frameshift RB1_00673 unknown

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