Variant (rsID / SNP)

rs34422225

rs34422225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGA. Clinical significance in the table: Benign.

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Reference-table entries

PIGABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_002641.4(PIGA):c.55C>T (p.Arg19Trp)
Allele change: Silent

Associated conditions / phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 2|History of neurodevelopmental disorder

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.