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Last update

21/6/2017

Gene: neurotrophic tyrosine kinase, receptor, type 1; NTRK1

Gene Symbol: NTRK1
OMIM: 191315
Chromosome location: 1q23.1

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Insensitivity to pain, congenital, with anhidrosis || c.207_208delTG

Phenotype:	Insensitivity to pain, congenital, with anhidrosis
Dna Change:	c.207_208delTG
Protein Change:	p.Glu70AlafsX16
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 1
Transcript:	NM_001012331.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	Southern (Skoura village)	2 unrelated families	NA	Suriu C et al., 2009Suriu 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; 75(3):230-6

References

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; 75(3):230-6

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: neurotrophic tyrosine kinase, receptor, type 1; NTRK1

References