LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003173)
Patient ID Supp_Tab_Mt-92
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.160729G>C
cDNA change c.2107-1G>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 20_in
RNA change splice_acceptor
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01900
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.160729G>C c.2107-1G>C Substitution 20_in splice_acceptor - - splice RB1_01900 unknown

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