rs121964985
This is a variant in the AMT gene that changes a arginine to an histidine.
▶ClinVar annotation
Pathogenic★★★☆
19 submitters16 publicationsGlycine encephalopathy; Glycine encephalopathy 1 (GCE1); Glycine encephalopathy 2 (GCE2); Inborn genetic diseases
View on ClinVar →About AMT
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all AMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…