LOVD - Variant listings for RB1

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Patient data (#0002932)
Patient ID ge_uni_iso_tu_3
Phenotype unilateral rb
Mut. origin germline
Tissue blood
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Published unpublished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.2137_2138ins23
cDNA change c.78_79ins23   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 01_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01673
originated_in germline

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.2137_2138ins23 c.78_79ins23 Insertion 01_ex - - - frameshift RB1_01673 germline

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