Annotation Detail
Information
- Associated Genes
- LARS2
- Associated Variants
-
LARS2 p.Thr522Asn (p.T522N)
(
ENST00000414984.5,
ENST00000642274.1,
ENST00000645846.2,
ENST00000650792.2 )
LARS2 p.Thr629Met (p.T629M) ( ENST00000414984.5, ENST00000642274.1, ENST00000645846.2, ENST00000650792.2 )
LARS2 p.Thr522Asn (p.T522N) ( 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
- Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
- Pubmed
- 23541342
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2013
Drugs