NTRK1

Gene name: neurotrophic tyrosine kinase, receptor, type 1
OMIM ID: 191315
Chromosome location: 1q23.1

Mutations

Disease/Phenotype	Insensitivity to pain, congenital, with anhidrosis
Reference transcript	NM_001012331.1
DNA Change	c.207_208 delTG
A.A. Change	p.Glu70Alafs*16
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin Genet. 2009 Mar;75(3):230-6.

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