LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001594)
Patient ID not provided
Phenotype no cancer
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Lohmann - Essen
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.99362C>T
cDNA change c.1695+21083C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 17_in
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_01076
originated_in -

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.99362C>T c.1695+21083C>T substitution 17_in - variant - variant RB1_01076 -

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