LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002381)
Patient ID RB-20
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.78155_78157del
cDNA change c.1571_1573del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 17_ex
RNA change -
Protein p.Lys524Thr/p.Ala525del
RBWiki -
expected consequence type in-frame
DB-ID RB1_01357
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.78155_78157del c.1571_1573del deletion 17_ex - p.Lys524Thr/p.Ala525del - in-frame RB1_01357 -

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