LOVD - Variant listings for RB1

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Patient data (#0002888)
Patient ID bilateral_310
Phenotype bilateral 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Published unpublished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.78277_78280
cDNA change c.1693_1695+1del   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 17_ex
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01629
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.78277_78280 c.1693_1695+1del Substitution 17_ex - - - unknown RB1_01629 germline

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