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rs121908191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908191(C;T)
Make rs121908191(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position157241663
GeneITK
is asnp
is mentioned by
dbSNPrs121908191
ebirs121908191
HLIrs121908191
Exacrs121908191
Varsomers121908191
Maprs121908191
PheGenIrs121908191
hapmaprs121908191
1000 genomesrs121908191
hgdprs121908191
ensemblrs121908191
gopubmedrs121908191
geneviewrs121908191
scholarrs121908191
googlers121908191
pharmgkbrs121908191
gwascentralrs121908191
openSNPrs121908191
23andMers121908191
23andMe allrs121908191
SNP Nexus

SNPshotrs121908191
SNPdbers121908191
MSV3drs121908191
GWAS Ctlgrs121908191
Max Magnitude0
OMIM186973
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908191(T;T)
Alt rs121908191(T;T)
Reference rs121908191(C;C)
Significance Pathogenic
Disease Lymphoproliferative syndrome 1
Variation info
Gene ITK
CLNDBN Lymphoproliferative syndrome 1
Reversed 0
HGVS NC_000005.9:g.156668673C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013578.24,


[PMID 19425169OA-icon.png] Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.