{{Rsnum
|rsid=6336
|Gene=NTRK1
|Chromosome=1
|position=156879126
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.01882
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NTRK1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 92.3 | 7.7 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=THYROID CARCINOMA, FAMILIAL MEDULLARY
|id=191315
|rsnum=6336
|variant=0008
}}

{{ neighbor
| rsid = 6339
| distance = 28
}}

{{PMID Auto
|PMID=19435634
|Title=Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
}}

{{PMID Auto
|PMID=21317683
|Title=Dual association of a TRKA polymorphism with schizophrenia
}}

{{omim
|id=191315
|rsnum=6336
|variant=0005
}}

{{PMID Auto
|PMID=22539856
|Title=Relationship of a Variant in the NTRK1 Gene to White Matter Microstructure in Young Adults.
|OA=1
}}

{{ClinVar
|rsid=6336
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=156879126
|CHROM=1
|GMAF=0.0188
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050168000a05150517110101
|GENEINFO=NTRK1:4914
|GENE_NAME=NTRK1
|GENE_ID=4914
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.156879126C>T
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001007792.1:c.1702C>T; NBK1769; 191315.0005; 191315.0008
|CLNSIG=5
|CLNCUI=C0020074
|CLNDBN=Familial medullary thyroid carcinoma; Hereditary insensitivity to pain with anhidrosis
|Disease=Familial medullary thyroid carcinoma; Hereditary insensitivity to pain with anhidrosis
|CLNACC=RCV000013100.21; RCV000030667.21; RCV000030674.1
|Tags=PM;PMC;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9812; 0.01882
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1257:C1833921:155240:ORPHA653; NBK1769:C0020074:256800:ORPHA642:62985007
|COMMON=1
}}

{{PMID Auto
|PMID=17212826
|Title=TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.
|OA=1
}}

{{PMID Auto
|PMID=18270328
|Title=Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
|OA=1
}}

{{PMID Auto
|PMID=18780967
|Title=SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population.
}}

{{PMID Auto
|PMID=10330344
|Title=Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
|OA=1
}}

{{PMID Auto
|PMID=11159935
|Title=Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
}}

{{GET Evidence
|gene=NTRK1
|aa_change=His604Tyr
|aa_change_short=H604Y
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6336
|overall_frequency_n=464
|overall_frequency_d=10758
|overall_frequency=0.0431307
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.999
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=5
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=0
|summary_short=Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}