LOVD - Variant listings for RB1

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Patient data (#0000588)
Patient ID Fam43
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.2168_2175del
cDNA change c.109_116del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 01_ex
RNA change -
Protein p.Ser37Glyfs*9
RBWiki -
expected consequence type frameshift
DB-ID RB1_00799
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.2168_2175del c.109_116del deletion 01_ex - p.Ser37Glyfs*9 - frameshift RB1_00799 unknown

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