KCNH1 - Gene browser

KCNH1

potassium voltage-gated channel subfamily H member 1

HCNC Approved Symbol: KCNH1 (HGNC:6250)
Genomic Coordinates: 1:210,678,314 - 211,134,148 (1q32.2)
Synonyms: Kv10.1, eag, h-eag, eag1, hEAG, K(V)10.1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the KCNH1 gene.

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

01
Patient count

Clinodactyly of the 5th finger: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Long philtrum: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Midface hypoplasia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Periorbital puffiness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)