rs128620187

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs128620187(C;T)

Make rs128620187(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101375248

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620187
dbSNP (classic)	rs128620187
ClinGen	rs128620187
ebi	rs128620187
HLI	rs128620187
Exac	rs128620187
Gnomad	rs128620187
Varsome	rs128620187
LitVar	rs128620187
Map	rs128620187
PheGenI	rs128620187
Biobank	rs128620187
1000 genomes	rs128620187
hgdp	rs128620187
ensembl	rs128620187
geneview	rs128620187
scholar	rs128620187
google	rs128620187
pharmgkb	rs128620187
gwascentral	rs128620187
openSNP	rs128620187
23andMe	rs128620187
SNPshot	rs128620187
SNPdbe	rs128620187
MSV3d	rs128620187
GWAS Ctlg	rs128620187

Max Magnitude

0

OMIM	300300
Desc
Variant	0008
Related	also

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.