MTHFR - Gene browser

MTHFR

methylenetetrahydrofolate reductase

HCNC Approved Symbol: MTHFR (HGNC:7436)
Genomic Coordinates: 1:11,785,723 - 11,805,964 (1p36.22)
Synonyms
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the MTHFR gene.

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

08
Patient count

Hyperhomocystinemia: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Seizures: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Absent speech: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Cognitive decline: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Elevated csf protein: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)