Annotation Detail
Information
- Associated Genes
- ASL
- Associated Variants
-
ASL p.Val178Met (p.V178M)
(
ENST00000304874.14,
ENST00000380839.9,
ENST00000395331.4,
ENST00000395332.8,
ENST00000673518.1 )
ASL p.Gln286Arg (p.Q286R) ( ENST00000304874.14, ENST00000380839.9, ENST00000395331.4, ENST00000395332.8, ENST00000673518.1 )
ASL p.Val178Met (p.V178M) ( ENST00000304874.14, ENST00000380839.9, ENST00000395331.4, ENST00000395332.8, ENST00000673518.1 )
ASL p.Gln286Arg (p.Q286R) ( ENST00000304874.14, ENST00000380839.9, ENST00000395331.4, ENST00000395332.8, ENST00000673518.1 ) - Associated Disease
- argininosuccinic aciduria
- Source Database
- DisGeNET
- Description
- Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
- Pubmed
- 17326097
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.562985860592883
- Year of publication
- 2007
Drugs