Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:68056877
- GRCh38:
- Chr14:67590160
| PIGH, GPHN | R162W, R163W | PIGH-related condition, Glycosylphosphatidylinositol biosynthesis defect 17, Inborn genetic diseases,
not provided | Conflicting interpretations of pathogenicity
(Aug 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:68060543
- GRCh38:
- Chr14:67593826
| PIGH, GPHN | S103P | Glycosylphosphatidylinositol biosynthesis defect 17 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr14:68066920
- GRCh38:
- Chr14:67600203
| GPHN, LOC130055900, PIGH | M1L | Glycosylphosphatidylinositol biosynthesis defect 17 | Pathogenic
(Jun 22, 2018) | no assertion criteria provided |