LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000437)
Patient ID #345
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history -
Reference Sippel et al., 1998
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.153335del
cDNA change c.1942del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 19_ex
RNA change -
Protein p.Ser648Hisfs*10
RBWiki -
expected consequence type frameshift
DB-ID RB1_00262
originated_in unknown

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.153335del c.1942del deletion 19_ex - p.Ser648Hisfs*10 - frameshift RB1_00262 unknown

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