LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003068)
Patient ID S83100
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history unknown
Reference COSMIC - COSM920
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.160783_160784insT
cDNA change c.2162dup   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 21_ex
RNA change -
Protein p.Lys722Glnfs*29
RBWiki -
expected consequence type frameshift
DB-ID RB1_01798
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.160783_160784insT c.2162dup Insertion 21_ex - p.Lys722Glnfs*29 - frameshift RB1_01798 somatic

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