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HTR3C

Synonyms
-
External resources
Summary
The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3.

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
16
Likely pathogenic
4
VUS
1,125
Likely benign
157
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on HTR3C gene are displayed below. The following symptoms were found in patients with a variant in HTR3C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the musculoskeletal system
40%
Abnormality of the eye
35%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Growth abnormality
20%
Abnormality of head or neck
10%
Abnormality of limbs
10%
Abnormality of the digestive system
10%
Abnormality of metabolism homeostasis
5%
Abnormality of the genitourinary system
5%
Abnormality of the integument
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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