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rs6339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6339(G;T)
Make rs6339(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156879154
GeneNTRK1
is asnp
is mentioned by
dbSNPrs6339
ebirs6339
HLIrs6339
Exacrs6339
Varsomers6339
Maprs6339
PheGenIrs6339
hapmaprs6339
1000 genomesrs6339
hgdprs6339
ensemblrs6339
gopubmedrs6339
geneviewrs6339
scholarrs6339
googlers6339
pharmgkbrs6339
gwascentralrs6339
openSNPrs6339
23andMers6339
23andMe allrs6339
SNP Nexus

SNPshotrs6339
SNPdbers6339
MSV3drs6339
GWAS Ctlgrs6339
GMAF0.01882
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM191315
DescTHYROID CARCINOMA, FAMILIAL MEDULLARY
Variant0009
Relatedalso
Neighborrs6336
Distance28
OMIM191315
Desc
Variant0005
Relatedalso


ClinVar
Risk rs6339(T;T)
Alt rs6339(T;T)
Reference rs6339(G;G)
Significance Pathogenic
Disease Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis not specified
Variation info
Gene NTRK1
CLNDBN Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis not specified
Reversed 0
HGVS NC_000001.10:g.156848946G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013101.17, RCV000030667.24, RCV000031916.1, RCV000127263.1,



[PMID 17212826OA-icon.png] TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.


[PMID 18270328OA-icon.png] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.


[PMID 10330344OA-icon.png] 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.


GET Evidence
NTRK1-G613V
aa_change Gly613Val
aa_change_short G613V
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0429448
summary Also called G607V, this variant has been reported as a nonpathogenic polymorphism.