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rs128620183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128620183(A;A)
Make rs128620183(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101354687
GeneBTK
is asnp
is mentioned by
dbSNPrs128620183
ClinGenrs128620183
ebirs128620183
HLIrs128620183
Exacrs128620183
Varsomers128620183
Maprs128620183
PheGenIrs128620183
hapmaprs128620183
1000 genomesrs128620183
hgdprs128620183
ensemblrs128620183
gopubmedrs128620183
geneviewrs128620183
scholarrs128620183
googlers128620183
pharmgkbrs128620183
gwascentralrs128620183
openSNPrs128620183
23andMers128620183
23andMe allrs128620183
SNP Nexus

SNPshotrs128620183
SNPdbers128620183
MSV3drs128620183
GWAS Ctlgrs128620183
Max Magnitude0
OMIM300300
Desc
Variant0001
Relatedalso
ClinVar
Risk rs128620183(A;A)
Alt rs128620183(A;A)
Reference Rs128620183(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100609675C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012095.2,


[PMID 7809124OA-icon.png] Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.


[PMID 8594569OA-icon.png] BTKbase, mutation database for X-linked agammaglobulinemia (XLA).


[PMID 8695804] Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.


[PMID 9445504] Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.


[PMID 17327079] [A retrospective study of one case of X-linked agammaglobulinemia].


[PMID 18518992OA-icon.png] X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.