Variant (rsID / SNP)

rs199422233

rs199422233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGA. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIGAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)
Allele change: Silent

Associated conditions / phenotypes

Paroxysmal nocturnal hemoglobinuria

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.