LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003066)
Patient ID COLO-824
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype unknown
family history unknown
Reference -
# Reported 1
Published published
Remarks COSMIC - COSM19549

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156691_156838del
cDNA change c.1961_2106del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 20_ex
RNA change -
Protein p.Val654Aspfs*18
RBWiki -
expected consequence type unknown
DB-ID RB1_01796
originated_in somatic

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.156691_156838del c.1961_2106del Deletion 20_ex - p.Val654Aspfs*18 - unknown RB1_01796 somatic

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