Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr11:30034080
- GRCh38:
- Chr11:30012533
| KCNA4 | A49V | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:30032402
- GRCh38:
- Chr11:30010855
| KCNA4 | K608N | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | Uncertain significance
(Sep 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:30033960
- GRCh38:
- Chr11:30012413
| KCNA4 | R89Q | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | Uncertain significance
(Sep 25, 2019) | criteria provided, single submitter |