LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003056)
Patient ID ge_is_notu_43
Phenotype no cancer
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Published unpublished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.162177T>C
cDNA change c.2326-27T>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 22_in
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01786
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.162177T>C c.2326-27T>C Substitution 22_in - - - unknown RB1_01786 somatic

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