LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002731)
Patient ID NCI-H2107
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM29799
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.45842dupT
cDNA change c.583dup   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 06_ex
RNA change -
Protein p.Trp195Leufs*8
RBWiki -
expected consequence type frameshift
DB-ID RB1_01530
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.45842dupT c.583dup Duplication 06_ex - p.Trp195Leufs*8 - frameshift RB1_01530 somatic

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