rs753899057
This variant is located in the AMT gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemiaCase reportN=69Shigeo Kure et al.(2006)· Human Mutation
Comprehensive mutation screening of GLDC, AMT, and GCSH genes in 69 families with nonketotic hyperglycinemia (NKH). Identified 36 GLDC mutations (28 novel) and 17 AMT mutations (13 novel) in 75% of neonatal and 83% of infantile families. Seven missense mutations clustered in GLDC exon 19 encoding the cofactor-binding site. A recurrent GLDC exon 1 deletion was found in Caucasian, Oriental, and Black families with evidence of multiple independent origins.
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.
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