LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002624)
Patient ID TCGA-06-0206
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM35747
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.170371G>C
cDNA change c.2490-1G>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 23_in
RNA change Essential splice site
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01489
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.170371G>C c.2490-1G>C Substitution 23_in Essential splice site - - unknown RB1_01489 somatic

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