|| common in clinvar
|?|| (G;G) (G;T) (T;T) ||28|
[PMID 17212826] TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.
[PMID 18270328] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
[PMID 10330344] Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
[PMID 10861667] Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
[PMID 11159935] Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
|| Low clinical importance, Uncertain benign
|| Also called G607V, this variant has been reported as a nonpathogenic polymorphism.