LOVD - Variant listings for RB1

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Patient data (#0003005)
Patient ID ng_un_is_tu_401
Phenotype unilateral rb
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history isolated
Reference not reported - Diana Rushlow, Gallie:Toronto
# Reported 1
Published unpublished
Remarks -
Submitter Diane Rushlow

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76923_76950del28
cDNA change c.1421+3_1421+30del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 15_in
RNA change -
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01745
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.76923_76950del28 c.1421+3_1421+30del Deletion 15_in - - - splice RB1_01745 somatic

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