Annotation Detail
Information
- Associated Genes
- RNASEL
- Associated Variants
-
RNASEL MUTATION
RNASEL MUTATION
RNASEL p.Asp541Glu (p.D541E) ( ENST00000367559.7, ENST00000539397.1 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000539397.1, ENST00000367559.7 )
RNASEL p.Asp541Glu (p.D541E) ( ENST00000367559.7, ENST00000539397.1 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000367559.7, ENST00000539397.1 ) - Associated Disease
- Prostate cancer, familial
- Source Database
- DisGeNET
- Description
- Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was completed in 155 African American sporadic and 88 familial prostate cancer cases, and 296 healthy male controls.
- Pubmed
- 18767027
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.364343069953285
- Year of publication
- 2008
Drugs