Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 19 | |
| | FARS2, LOC129995672
+1 more (A3T) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 19 | |
| | FARS2, LOC129995672
+1 more (S11A) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 19 | |
Click to view in NCBI Gene