Table 2.
Variants identified in ABCC8. ID and etiology of patients in which a variant in ABCC8 was identified. Transcript for ABCC8 variant annotation was NM_000352.4.
| Patient ID | PAH Etiology | Variant |
|---|---|---|
| HTP114 | IPAH | ABCC8:NM_000352.4:c.1643C>T:p.(Thr548Met) |
| HTP88 | IPAH | ABCC8:NM_000352:exon26:c.3288_3289del:p.(His1097Profs*16) |
| HTP151 | IPAH | ABCC8:NM_000352.4:c.3238G>A:p.(Val1080Ile) |
| HTP159 | IPAH | ABCC8:NM_000352.4:c.2422C>A:p.(Gln808Lys) |
| HTP162 | IPAH | ABCC8:NM_000352.4:c.1429G>A:p.(Val477Met) |
| HTP466 | IPAH | ABCC8:NM_000352.4:c.3976G>A:p.Glu1326Lys |
| HTP37 | IPAH | ABCC8:NM_000352.3:c.579+5G>A |
| HTP78 | CREST-PAH | ABCC8:NM_000352.3:c.2694+1G>A |
| HTP474 | CHD | ABCC8:NM_000352.4:c.3394G>A:p.Asp1132Asn |