Variant (rsID / SNP)

rs587777396

rs587777396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGA. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PIGAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)
Allele change: Silent

Associated conditions / phenotypes

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.