HCN1 - Gene browser

HCN1

hyperpolarization activated cyclic nucleotide gated potassium channel 1

HCNC Approved Symbol: HCN1 (HGNC:4845)
Genomic Coordinates: 5:45,254,948 - 45,696,380 (5p12)
Synonyms: BCNG-1, HAC-2, BCNG1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the HCN1 gene.

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

02
Patient count

Autism spectrum disorder: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Epilepsy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Epileptic encephalopathy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Global development delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Intellectual disability: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)