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rs6336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs6336(C;T)
Make rs6336(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156879126
GeneNTRK1
is asnp
is mentioned by
dbSNPrs6336
ebirs6336
HLIrs6336
Exacrs6336
Varsomers6336
Maprs6336
PheGenIrs6336
hapmaprs6336
1000 genomesrs6336
hgdprs6336
ensemblrs6336
gopubmedrs6336
geneviewrs6336
scholarrs6336
googlers6336
pharmgkbrs6336
gwascentralrs6336
openSNPrs6336
23andMers6336
23andMe allrs6336
SNP Nexus

SNPshotrs6336
SNPdbers6336
MSV3drs6336
GWAS Ctlgrs6336
GMAF0.01882
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM191315
DescTHYROID CARCINOMA, FAMILIAL MEDULLARY
Variant0008
Relatedalso
Neighborrs6339
Distance28


[PMID 19435634] Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia


[PMID 21317683] Dual association of a TRKA polymorphism with schizophrenia

OMIM191315
Desc
Variant0005
Relatedalso
[PMID 22539856OA-icon.png] Relationship of a Variant in the NTRK1 Gene to White Matter Microstructure in Young Adults.


ClinVar
Risk rs6336(T;T)
Alt rs6336(T;T)
Reference rs6336(C;C)
Significance Pathogenic
Disease Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis
Variation info
Gene NTRK1
CLNDBN Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis
Reversed 0
HGVS NC_000001.10:g.156848918C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013100.23, RCV000030667.24, RCV000030674.1,



[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 18780967] SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population.


[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 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-H604Y
aa_change His604Tyr
aa_change_short H604Y
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0431307
summary 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.