LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002598)
Patient ID NCI-H2029
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM13740
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.39445G>T
cDNA change c.265-1G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01476
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.39445G>T c.265-1G>T Substitution 02_in altered splicing - - unknown RB1_01476 somatic

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