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MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

HCNC Approved Symbol
MTRR (HGNC:7473)
Genomic Coordinates
5:7,850,859 - 7,901,113 (5p15.31)
Synonyms
cblE
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the MTRR gene.

Frequently observed phenotypes

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

Chronic hemolytic anemia
 2 (100.0%)
Facial anomaly
 2 (100.0%)
Icterus
 2 (100.0%)
Macrocytic anemia
 2 (100.0%)
Nonspherocytic hemolytic anemia
 2 (100.0%)
MTRR - Gene browser | 3billion