Variant: rs1026300967

present in Gene: NTRK1 present in Chromosome: 1 Position on Chromosome: 156868246 Alleles of this Variant: T/C

rs1026300967 in NTRK1 gene and Dysmorphic features PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

PMID 27676246 2017 A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

PMID 28940190 2017 Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

rs1026300967 in NTRK1 gene and Multiple congenital anomalies PMID 27676246 2017 A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

PMID 28940190 2017 Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.