Disorder "Hyperhomocysteinemia"
Found 1 record
Disorder information
Disorder name:
Hyperhomocysteinemia
Disoder ID:
Definition:
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered MTHFR activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MTHFR | MTHFR:c.A1298C(p.Glu429Ala) | Expressivity | Altered MTHFR activity | P<0.05 | The A1298C mutation clearly reduces MTHFR activity, albeit to a lesser extent than the C677T mutation.more | more |
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