LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003065)
Patient ID ge_is_notu_49
Phenotype no cancer
Mut. origin somatic
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Published unpublished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.162208_162209del
cDNA change c.2330_2331del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 23_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01795
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.162208_162209del c.2330_2331del Deletion 23_ex - - - frameshift RB1_01795 somatic

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