Variant (rsID / SNP)

rs193922125

rs193922125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTK. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BTKLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000061.3(BTK):c.1511A>T (p.Asp504Val)
Allele change: Missense_D504V

Associated conditions / phenotypes

X-linked agammaglobulinemia

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.