LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002467)
Patient ID Case 8
Phenotype other cancer
Mut. origin -
Tissue tumor
Template RNA
tumor-genotype unknown
family history -
Reference Kubota et al. (1995) Prostate. 1995 Dec;27(6):314-20.
# Reported 1
Published published
Remarks prostate cancer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
g-position g.59705del
cDNA change c.773del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 08_ex
RNA change -
Protein p.Asn258Thrfs*6
RBWiki -
expected consequence type frameshift
DB-ID RB1_01403
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.59705del c.773del Deletion 08_ex - p.Asn258Thrfs*6 - frameshift RB1_01403 unknown

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