Variant (rsID / SNP)

rs587777399

rs587777399 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: Deletion
Cytoband: Xp22.2
HGVS: NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)

Associated conditions / phenotypes

Neurodevelopmental disorder with epilepsy and hemochromatosis|Multiple congenital anomalies-hypotonia-seizures syndrome 2

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.