Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:31964049
- GRCh38:
- Chr6:31996272
| C4A | H1151Q | Decreased circulating complement C4a concentration | Uncertain significance
(Sep 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31963221
- GRCh38:
- Chr6:31995444
| C4A | P1020L | Decreased circulating complement C4a concentration | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31964621-31964622
- GRCh38:
- Chr6:31996844-31996845
| C4A | V1233fs | not provided | Benign
(Aug 1, 2023) | criteria provided, single submitter |