LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003129)
Patient ID E5953
Phenotype retinoblastoma
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Lohmann, Germany:Essen
# Reported 1
Published unpublished
Remarks -
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
g-position g.150037dup
cDNA change c.1735dup   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 18_ex
RNA change -
Protein p.(Arg579Profs*6)
RBWiki -
expected consequence type unknown
DB-ID RB1_01857
originated_in somatic

2 entries 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.150037dup c.1735dup Duplication 18_ex - p.(Arg579Profs*6) - unknown RB1_01857 somatic
+?/+? Unknown g.153342T>A c.1949T>A Substitution 19_ex - p.(Phe650Tyr) - missense RB1_01856 somatic

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