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NTRK1

Synonyms
MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA
External resources
Summary
This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date.

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
41
Likely pathogenic
2
VUS
23,681
Likely benign
7,071
Benign
817

Patient phenotypes

Proportions of phenotypes among 36 patients carrying pathogenic or likely pathogenic variants on NTRK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.8%
Abnormality of the musculoskeletal system
27.8%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
22.2%
Growth abnormality
16.7%
Abnormality of limbs
13.9%
Abnormality of the ear
13.9%
Abnormality of the eye
11.1%
Abnormality of the integument
11.1%
Abnormality of the genitourinary system
8.3%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of prenatal development or birth
2.8%
Abnormality of the endocrine system
2.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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