LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003062)
Patient ID noge_uni_is_121
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Published unpublished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 2nd mut in tumor
Submitter Diane Rushlow

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.61732insA
cDNA change c.864insA
Type Insertion
Exon 09_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01792
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.61732insA c.864insA Insertion 09_ex - - - frameshift RB1_01792 somatic

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