Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg290His (p.R290H)
(
ENST00000504937.5,
ENST00000455263.6,
ENST00000576024.2,
ENST00000510385.5,
ENST00000420246.6,
ENST00000445888.6,
ENST00000604348.6,
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000714408.1,
ENST00000622645.4,
ENST00000714356.1,
ENST00000504290.5,
ENST00000620739.4,
ENST00000714357.1,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000714359.1,
ENST00000714409.1 )
TP53 p.Arg290His (p.R290H) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- Glioblastoma multiforme
- Source Database
- DisGeNET
- Description
- One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
- Pubmed
- 20455025
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0137675906059748
- Year of publication
- 2010
Drugs