rs200815412

This variant is located in the NTRK1 gene.

▶

ClinVar annotation

Conflicting Classifications

8 submitters2 publications

Hereditary insensitivity to pain with anhidrosis; not provided; Inborn genetic diseases; NTRK1-related disorder; not specified

View on ClinVar →

About NTRK1

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]

View all NTRK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…