Disorder "Abnormal circulating tyrosine concentration"
Found 1 record
Disorder information
Disorder name:
Abnormal circulating tyrosine concentration
Disoder ID:
Definition:
Any deviation from the normal concentration of tyrosine in the blood circulation.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| FAH | FAH:rs143326948 | Penetrance | Altered incidence | Gene activity study | The splicing defect caused by the primary mutation is most likely suppressed by the new mutation due to improvement of the splicing site.more | more |
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