{{Rsnum
|rsid=6339
|Gene=NTRK1
|Chromosome=1
|position=156879154
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.01882
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=NTRK1
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 90.3 | 9.7 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 0.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 90.1 | 9.9 | 0.0
| LWK | 98.2 | 1.8 | 0.0
| MEX | 93.1 | 6.9 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 86.3 | 13.7 | 0.0
| HapMapRevision=28
}}{{omim
|desc=THYROID CARCINOMA, FAMILIAL MEDULLARY
|id=191315
|rsnum=6339
|variant=0009
}}

{{ neighbor
| rsid = 6336
| distance = 28
}}

{{omim
|id=191315
|rsnum=6339
|variant=0005
}}

{{ClinVar
|rsid=6339
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=156879154
|CHROM=1
|GMAF=0.0188
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050168000a05150517110100
|GENEINFO=NTRK1:4914
|GENE_NAME=NTRK1
|GENE_ID=4914
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.156879154G>T
|CLNSRC=ClinVar; GeneDx; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001007792.1:c.1730G>T; 312344; NBK1769; 191315.0005; 191315.0009
|CLNSIG=5
|CLNCUI=C0020074; C0020074
|CLNDBN=Familial medullary thyroid carcinoma; Hereditary insensitivity to pain with anhidrosis; not provided
|Disease=Familial medullary thyroid carcinoma; Hereditary insensitivity to pain with anhidrosis; not provided
|CLNACC=RCV000013101.15; RCV000030667.21; RCV000031916.1; RCV000127263.1
|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=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=10861667
|Title=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 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=Gly613Val
|aa_change_short=G613V
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6339
|overall_frequency_n=462
|overall_frequency_d=10758
|overall_frequency=0.0429448
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.004
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=3
|n_web_uneval=2
|variant_evidence=0
|clinical_importance=0
|summary_short=Also called G607V, this variant has been reported as a nonpathogenic polymorphism.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}