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KCNH8

Synonyms
ELK, ELK1, Kv12.1, elk3
External resources
Summary
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
8,705
Likely benign
2,550
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KCNH8 gene.

Phenotype class
Patients in 3billion (%)

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