LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000145)
Patient ID Lu135
Phenotype other tumor
Mut. origin -
Tissue SCLC cell line
Template DNA
tumor-genotype -
family history -
Reference Kashii et al., 1994
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.156713_156716del
cDNA change c.1981_1984del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 20_ex
RNA change -
Protein p.(Arg661*)
RBWiki -
expected consequence type frameshift
DB-ID RB1_00148
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.156713_156716del c.1981_1984del deletion 20_ex - p.(Arg661*) - frameshift RB1_00148 unknown

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