Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:121980544
- GRCh38:
- Chr3:122261697
| CASR | P221L | Autosomal dominant hypocalcemia 1, Epilepsy, idiopathic generalized, susceptibility to, 8, Familial hypocalciuric hypercalcemia 1,
Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia, Nephrolithiasis/nephrocalcinosis,
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, not provided
| Pathogenic
(Sep 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:122002611
- GRCh38:
- Chr3:122283764
| CASR | E604K, E614K | CASR-related condition, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia,
not provided, Autosomal dominant hypocalcemia, Nephrolithiasis/nephrocalcinosis
| Pathogenic
(Sep 11, 2023) | criteria provided, multiple submitters, no conflicts |