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AMT

aminomethyltransferase

HCNC Approved Symbol
AMT (HGNC:473)
Genomic Coordinates
3:49,416,778 - 49,422,473 (3p21.31)
Synonyms
GCST, NKH
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the AMT gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Seizures
 5 (55.6%)
Lethargy
 2 (22.2%)
Hyperglycinemia
 2 (22.2%)
Behavior problems
 2 (22.2%)
Bushy eyebrows
 2 (22.2%)
AMT - Gene browser | 3billion