LOVD - Variant listings for RB1

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Patient data (#0002973)
Patient ID ng_un_is_tu_223
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Published unpublished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.59744_59745insC
cDNA change c.812_813insC   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 08_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01713
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.59744_59745insC c.812_813insC Insertion 08_ex - - - frameshift RB1_01713 somatic

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