LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002737)
Patient ID TCGA-02-0055
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM35345
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.59731_59768del
cDNA change c.799_836del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 08_ex
RNA change -
Protein p.Leu267Argfs*3
RBWiki -
expected consequence type frameshift
DB-ID RB1_01532
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.59731_59768del c.799_836del Deletion 08_ex - p.Leu267Argfs*3 - frameshift RB1_01532 somatic

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