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KCNH6

Synonyms
ERG-2, ERG2, HERG2, Kv11.2, hERG-2
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. Alternative splicing results in multiple transcript variants that encode different isoforms.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
97
Likely pathogenic
0
VUS
3,991
Likely benign
801
Benign
0

Patient phenotypes

Proportions of phenotypes among 95 patients carring pathogenic or likely pathogenic variants on KCNH6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.7%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
20%
Abnormality of the ear
18.9%
Abnormality of the cardiovascular system
17.9%
Abnormality of the eye
17.9%
Abnormality of the genitourinary system
11.6%
Growth abnormality
11.6%
Abnormality of limbs
6.3%
Abnormality of the digestive system
5.3%
Abnormality of the integument
5.3%
Abnormality of prenatal development or birth
3.2%
Abnormality of the endocrine system
3.2%
Abnormality of the immune system
3.2%
Abnormality of blood and blood-forming tissues
2.1%
Abnormality of the respiratory system
2.1%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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