LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003183)
Patient ID Supp_Tab_Mt-85
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Price et al., 2013
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156700dupG
cDNA change c.1968dupG   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 20_ex
RNA change -
Protein p.(Leu657Alafs*11)
RBWiki -
expected consequence type frameshift
DB-ID RB1_01910
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.156700dupG c.1968dupG Duplication 20_ex - p.(Leu657Alafs*11) - frameshift RB1_01910 unknown

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