LOVD - Variant listings for RB1

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Patient data (#0002778)
Patient ID CPC-N
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM18093
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.77065_g.77066insT
cDNA change c.1486_1487insT   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 16_ex
RNA change -
Protein p.Ala496Valfs*4
RBWiki -
expected consequence type frameshift
DB-ID RB1_01558
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.77065_g.77066insT c.1486_1487insT Insertion 16_ex - p.Ala496Valfs*4 - frameshift RB1_01558 somatic

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