LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002714)
Patient ID LB647-SCLC
Phenotype -
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM29200
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2104_2139del
cDNA change c.45_79del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 01_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_00422
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.2104_2139del c.45_79del deletion 01_ex - - - frameshift RB1_00422 somatic

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