Variant (rsID / SNP)

rs128621203

rs128621203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTK. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BTKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)
Allele change: Missense_L542P

Associated conditions / phenotypes

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.