LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000115)
Patient ID family S
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history familial lp
Reference Cowell et al., 1996
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1910G>C
cDNA change c.-150G>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein SP1-recognition
RBWiki -
expected consequence type promoter
DB-ID RB1_00022
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.1910G>C c.-150G>C substitution 00_up - SP1-recognition - promoter RB1_00022 -

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