rs128620183

minus

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

Make rs128620183(A;A)

Make rs128620183(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101354687

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620183
dbSNP (classic)	rs128620183
ClinGen	rs128620183
ebi	rs128620183
HLI	rs128620183
Exac	rs128620183
Gnomad	rs128620183
Varsome	rs128620183
LitVar	rs128620183
Map	rs128620183
PheGenI	rs128620183
Biobank	rs128620183
1000 genomes	rs128620183
hgdp	rs128620183
ensembl	rs128620183
geneview	rs128620183
scholar	rs128620183
google	rs128620183
pharmgkb	rs128620183
gwascentral	rs128620183
openSNP	rs128620183
23andMe	rs128620183
SNPshot	rs128620183
SNPdbe	rs128620183
MSV3d	rs128620183
GWAS Ctlg	rs128620183

Max Magnitude

0

OMIM	300300
Desc
Variant	0001
Related	also

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 7809124 ] Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

[PMID 8594569 ] 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 18518992 ] X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.