LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001827)
Patient ID Fam550
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history familial
Reference not reported, BL Gallie - Toronto
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1863G>A
cDNA change c.-197G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein -
RBWiki -
expected consequence type promoter
DB-ID RB1_00928
originated_in -

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.1863G>A c.-197G>A substitution 00_up - - - promoter RB1_00928 -

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