LOVD - Variant listings for RB1

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Patient data (#0002816)
Patient ID TCGA-06-0213
Phenotype -
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Cancer Genome Atlas Research Network Nature. 2008, COSM35800
# Reported 1
Published published
Remarks benign / tolerated

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.153353G>C
cDNA change c.1960G>C
Type substitution
Exon 19_ex
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_00315
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.153353G>C c.1960G>C substitution 19_ex altered splicing - - splice RB1_00315 somatic

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