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rs128620187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128620187(C;T)
Make rs128620187(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101375248
GeneBTK
is asnp
is mentioned by
dbSNPrs128620187
ebirs128620187
HLIrs128620187
Exacrs128620187
Varsomers128620187
Maprs128620187
PheGenIrs128620187
hapmaprs128620187
1000 genomesrs128620187
hgdprs128620187
ensemblrs128620187
gopubmedrs128620187
geneviewrs128620187
scholarrs128620187
googlers128620187
pharmgkbrs128620187
gwascentralrs128620187
openSNPrs128620187
23andMers128620187
23andMe allrs128620187
SNP Nexus

SNPshotrs128620187
SNPdbers128620187
MSV3drs128620187
GWAS Ctlgrs128620187
Max Magnitude0
OMIM300300
Desc
Variant0008
Relatedalso
ClinVar
Risk rs128620187(T;T)
Alt rs128620187(T;T)
Reference rs128620187(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012097.17,


[PMID 156610] Self indentified personality patterns of children with facial or orthopedic disfigurement.

[PMID 9143921] Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

[PMID 11555397] Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.

[PMID 11742281] Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

[PMID 12204007] Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

[PMID 16751014] Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes.