Annotation Detail

Information
Associated Genes
LARS2
Associated Variants
LARS2 p.Thr629Met (p.T629M) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 )
LARS2 p.Thr629Met (p.T629M) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 )
Associated Disease
Perrault syndrome 4
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