LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002959)
Patient ID ng_un_is_tu_165
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Published unpublished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 -
Submitter Diane Rushlow

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.39489_39490dup
cDNA change c.308_309dup   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 03_ex
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01699
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.39489_39490dup c.308_309dup Duplication 03_ex - - - unknown RB1_01699 somatic

Please help to improve the quality of the data and report any error that you may find!