Annotation Detail

Information
Associated Genes
ELAC2
Associated Variants
ELAC2 p.Arg781His (p.R781H) ( ENST00000338034.9, ENST00000426905.7, ENST00000395962.6 )
ELAC2 p.Glu622Val (p.E622V) ( ENST00000426905.7, ENST00000395962.6, ENST00000338034.9 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ala541Thr (p.A541T) ( ENST00000426905.7, ENST00000395962.6, ENST00000338034.9 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Arg781His (p.R781H) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Glu622Val (p.E622V) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Glu622Gly (p.E622G) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ala541Thr (p.A541T) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.His548ArgfsTer68 (p.H548Rfs*68)
ELAC2 p.His548ArgfsTer68 (p.H548Rfs*68)
Associated Disease
Prostate cancer, hereditary, 2
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.24
Year of publication
NA
Drugs