Geno
|
Mag
|
Summary
|
(-;-)
|
8
|
inherited CD59 deficiency
|
(-;T)
|
4
|
unaffected carrier of an inherited CD59 deficiency allele
|
(A;A)
|
8
|
inherited C59 deficiency
|
(A;T)
|
4
|
unaffected carrier of an inherited C59 deficiency allele
|
(T;T)
|
0
|
common in clinvar
|
See discussion at rs587777149; however, be aware of the potential that this is an error in orientation due to ambiguous flip issues. This is a very rare inherited disorder, with a very severe phenotype, and "true" rs587777149(A;A) patients will most likely have been diagnosed early in infancy.