LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002613)
Patient ID NCI-H1926
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM1034
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.78082G>T
cDNA change c.1499-1G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 16_in
RNA change Essential splice site
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01414
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.78082G>T c.1499-1G>T Substitution 16_in Essential splice site - - splice RB1_01414 somatic

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