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TRPA1

Synonyms
ANKTM1, FEPS, FEPS1
External resources
Summary
The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control.

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
19
Likely pathogenic
4
VUS
2,157
Likely benign
3,447
Benign
3,569

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on TRPA1 gene are displayed below. The following symptoms were found in patients with a variant in TRPA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.8%
Abnormality of the ear
26.1%
Abnormality of the nervous system
21.7%
Abnormality of the cardiovascular system
17.4%
Abnormality of the genitourinary system
8.7%
Abnormality of the musculoskeletal system
8.7%
Abnormality of the respiratory system
8.7%
Abnormality of blood and blood forming tissues
4.3%
Abnormality of head or neck
4.3%
Abnormality of limbs
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the immune system
4.3%
Growth abnormality
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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