NTRK1 Chromosome 1
Neurotrophic receptor tyrosine kinase 1
Upload your DNA to see your personal genotypes for variants in NTRK1.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor tyrosine kinases|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
1q23.1
Ensembl
ENSG00000198400
Associated Conditions (10)
Hereditary insensitivity to pain with anhidrosis
Inborn genetic diseases
Charcot-Marie-Tooth disease
Hereditary cancer
NTRK1-related disorder
Familial medullary thyroid carcinoma
Premature ovarian failure
Ovarian cancer
Neurodevelopmental disorder
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1
Key Variants
RS1024148691
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS1026300967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
Health Risk
RS1052882544
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS1204319733
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS121964869
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS137979116
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary cancer
Health Risk
RS137994522
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Hereditary cancer, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS138608619
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma, Inborn genetic diseases
Health Risk
RS141021604
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS141592864
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS142870382
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
Health Risk
RS144609655
Conflicting classifications of pathogenicity
Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
Health Risk
All Variants (232)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763758904 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease |
| RS764771898 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS764816792 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease |
| RS764992664 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease |
| RS768373757 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS770727871 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS774533432 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS777422547 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS781055610 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS80356674 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis |
| RS80356675 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS80356676 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS869026199 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS879253889 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS879253890 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS914061514 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS993479544 | Health Risk | Pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS1064793219 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS121964868 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS1324983370 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis |
| RS1647805941 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS2102925337 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS2525667554 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases |
| RS369353892 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, NTRK1-related disorder, Hereditary insensitivity to pain with anhidrosis |
| RS370828525 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS747711259 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS747947642 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS748672380 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis, PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 |
| RS757012840 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS763122825 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS764171953 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS80356677 | Health Risk | Pathogenic/Likely pathogenic | Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |