MAT1A - Gene browser | 3billion

MAT1A

MAT1A

methionine adenosyltransferase 1A

HCNC Approved Symbol: MAT1A (HGNC:6903)
Genomic Coordinates: 10:80,271,820 - 80,289,658 (10q22.3)
Synonyms: MAT, SAMS, MATA1, SAMS1, MAT-I/III
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the MAT1A gene.

Frequently observed phenotypes(Top 5 only)

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

04
Patient count

Hypermethioninemia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Jaundice: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Homocystinuria: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Increased methionine in blood: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)

Last updated: 2024-06-30

MAT1A - Gene browser | 3billion