LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002602)
Patient ID MS-1
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM13735
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.70240A>G
cDNA change c.1128-2A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 11_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01478
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.70240A>G c.1128-2A>G Substitution 11_in altered splicing - - unknown RB1_01478 somatic

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