LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002401)
Patient ID PA-1
Phenotype other cancer
Mut. origin -
Tissue ovarian carcinoma cell li
Template DNA
tumor-genotype heterozygous
family history -
Reference -
# Reported 1
Published published
Remarks ovarian cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.162270C>T
cDNA change c.2392C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 23_ex
RNA change -
Protein p.Arg798Trp
RBWiki -
expected consequence type -
DB-ID RB1_01373
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.162270C>T c.2392C>T substitution 23_ex - p.Arg798Trp - - RB1_01373 -

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