Variant (rsID / SNP)

rs128621201

rs128621201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTK. Clinical significance in the table: Pathogenic.

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Reference-table entries

BTKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
Allele change: Nonsense_R520X

Associated conditions / phenotypes

X-linked agammaglobulinemia|Autosomal recessive agammaglobulinemia 1|X-linked agammaglobulinemia with growth hormone deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.