Gs307
From SNPedia
| Gs307 | |
|---|---|
| Magnitude | 3 |
| Repute | Bad |
| Summary | One or more G6PD deficiency-associated mutations detected in uploaded data. |
| Criteria | Gs307/criteria |
This genoset is expected to be observed primarily in females who are carriers of one (or possibly more) genotypes containing a class I, II or III (pathogenic) G6PD deficiency-associated mutation. Sons have a 50% chance of being G6PD deficient. Due to the random nature of X-chromosome inactivation, these (heterozygous) females may or may not have any G6PD deficiency themselves; only enzymatic testing for G6PD can determine that.
The genotype containing the specific mutation observed is listed separately in the individual's Promethease report.
