Have questions? Visit https://www.reddit.com/r/SNPedia

rs1670283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs1670283(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position29193706
GeneALK
is asnp
is mentioned by
dbSNPrs1670283
ebirs1670283
HLIrs1670283
Exacrs1670283
Varsomers1670283
Maprs1670283
PheGenIrs1670283
hapmaprs1670283
1000 genomesrs1670283
hgdprs1670283
ensemblrs1670283
gopubmedrs1670283
geneviewrs1670283
scholarrs1670283
googlers1670283
pharmgkbrs1670283
gwascentralrs1670283
openSNPrs1670283
23andMers1670283
23andMe allrs1670283
SNP Nexus

SNPshotrs1670283
SNPdbers1670283
MSV3drs1670283
GWAS Ctlgrs1670283
GMAF0.006887
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ALK
allele C
frequency 1
sift TOLERATED
HuRef 1103658054085
Disease Association A chromosomal aberration involving ALK is found in a form of non-Hodgkin lymphoma. Translocation t(2;5)(p23;q35) with NPM1. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes constitutively activated. The constitutively active fusion proteins are responsible for 5-10% of non-Hodgkin lymphomas.



GET Evidence
ALK-I1461V
aa_change Ile1461Val
aa_change_short I1461V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.989031
summary



ClinVar
Risk rs1670283(C;C)
Alt rs1670283(C;C)
Reference rs1670283(T;T)
Significance Untested
Disease not specified
Variation info
Gene ALK
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.29416572T>C
CLNSRC ClinVar
CLNACC RCV000119976.1,