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KCND1

Synonyms
KV4.1
External resources
Summary
This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction.

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
2,012
Likely benign
1,228
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KCND1 gene.

Phenotype class
Patients in 3billion (%)

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