LOVD - Variant listings for RB1

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Patient data (#0002837)
Patient ID TCGA-13-1489
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM76180
# Reported 1
Published published
Remarks probably damaging / deleterious

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156836C>A
cDNA change c.2104C>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 20_ex
RNA change Splice
Protein p.Gln702Lys
RBWiki -
expected consequence type missense-splice
DB-ID RB1_00292
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.156836C>A c.2104C>A substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 somatic

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