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     
+/. 4 c.1030_1032del r.(?) p.(Leu344del) - pathogenic g.15342943_15342945del g.15324821_15324823del - - PIGA_000038 This variant was not found in the 1000 Genomes Project or Exome Variant Server databases. CD59 surface expression was normal in red blood cells, however, other GPI-anchored proteins were reduced in granulocytes. PubMed: Swoboda et al 2014 - rs587777399 Germline yes - - 0 - Philippe Campeau
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