| carrier of a mitochondrial respiratory chain (RC) disorder allele |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
6
|
Mitochondrial respiratory chain (RC) disorder allele
|
| (A;G)
|
3
|
carrier of a mitochondrial respiratory chain (RC) disorder allele
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
0
|
likely to be benign
|
| (T;T)
|
0
|
likely to be benign
|
Unless inherited along with a different defective allele in the same gene, this genotype indicates being an unaffected carrier of one defective allele reported to lead to a mitochondrial respiratory chain (RC) disorder known as Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). See further discussion at rs11539445.
