All variants in the PIGA gene

Information The variants shown are described using the NM_002641.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.989G>A r.(?) p.(Ser330Asn) - likely pathogenic g.15342986C>T g.15324864C>T - - PIGA_000051 - PubMed: Tarailo-Graovac et al. 2015 - - Germline yes - - 0 - Philippe Campeau
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