Table 2 The result of genetic sequencing of the patient
From: Immunodeficiency due to a novel variant in PIK3CD: a case report
Gene/Transcript | Variant Location | Chromosome position (GRCh37) | Relationship with the patient | Zygosity | Variant classification |
|---|---|---|---|---|---|
PIK3CD ENST00000377346.4 NM-005026 | Exon11 | c.1429G > A p.E477K | Proband | Het | VUS |
Mother | Het | ||||
Father | N |