LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002730)
Patient ID NCI-H596
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC -COSM19454
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.45800_45801insT
cDNA change c.542dup   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 06_ex
RNA change Splice site
Protein p.Ser182Ilefs*3
RBWiki -
expected consequence type frameshift
DB-ID RB1_01529
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.45800_45801insT c.542dup Insertion 06_ex Splice site p.Ser182Ilefs*3 - frameshift RB1_01529 somatic

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