LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002469)
Patient ID Case 3
Phenotype other cancer
Mut. origin unknown
Tissue tumor
Template RNA
tumor-genotype unknown
family history unknown
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 Unknown
g-position g.153227T>C
cDNA change c.1834T>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 19_ex
RNA change -
Protein p.Ser612Pro
RBWiki -
expected consequence type missense
DB-ID RB1_01405
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.153227T>C c.1834T>C Substitution 19_ex - p.Ser612Pro - missense RB1_01405 -

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