KCNA1 - Gene browser | 3billion

KCNA1

KCNA1

potassium voltage-gated channel subfamily A member 1

HCNC Approved Symbol: KCNA1 (HGNC:6218)
Genomic Coordinates: 12:4,909,905 - 4,918,256 (12p13.32)
Synonyms: Kv1.1, RBK1, HUK1, MBK1, AEMK
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the KCNA1 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

02
Patient count

Diaphragmatic hernia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hyperekplexia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Stiff: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Underweight: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

KCNA1 - Gene browser | 3billion