Variant: rs128622212 

    present in Gene: BTK;TIMM8A
    present in Chromosome: X
    Position on Chromosome: 101349910
    Alleles of this Variant: A/G

rs128622212 in BTK;TIMM8A gene and X-linked agammaglobulinemia PMID 9260159 1997 Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

PMID 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

PMID 8013627 1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

PMID 9016530 1997 BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

PMID 9280283 1997 Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

PMID 8695804 1996 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 8834236 1996 Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.

PMID 8723128 1996 Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.

PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

PMID 7849697 1994 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

PMID 8594569 1996 BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

PMID 10612838 2000 Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.

PMID 7849006 1995 Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

PMID 7897635 1995 A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

PMID 7633420 1995 Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

PMID 10678660 2000 Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

PMID 7627183 1995 Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

PMID 10220140 1999 Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.