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rs137853326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853326(G;T)
Make rs137853326(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154564451
GeneIKBKG
is asnp
is mentioned by
dbSNPrs137853326
ClinGenrs137853326
ebirs137853326
HLIrs137853326
Exacrs137853326
Varsomers137853326
Maprs137853326
PheGenIrs137853326
hapmaprs137853326
1000 genomesrs137853326
hgdprs137853326
ensemblrs137853326
gopubmedrs137853326
geneviewrs137853326
scholarrs137853326
googlers137853326
pharmgkbrs137853326
gwascentralrs137853326
openSNPrs137853326
23andMers137853326
23andMe allrs137853326
SNP Nexus

SNPshotrs137853326
SNPdbers137853326
MSV3drs137853326
GWAS Ctlgrs137853326
Max Magnitude0
OMIM300248
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137853326(A;A) rs137853326(T;T)
Alt rs137853326(A;A) rs137853326(T;T)
Reference Rs137853326(G;G)
Significance Pathogenic
Disease not provided Hypohidrotic ectodermal dysplasia with immune deficiency
Variation info
Gene IKBKG
CLNDBN not provided Hypohidrotic ectodermal dysplasia with immune deficiency
Reversed 0
HGVS NC_000023.10:g.153792666G>A; NC_000023.10:g.153792666G>T
CLNSRC UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059067.1, RCV000012211.20, RCV000059068.1,


[PMID 11242109] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.


[PMID 15100680] The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.