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     
+/. 2 c.616A>T r.(?) p.(Ile206Phe) - pathogenic g.15349437T>A g.15331315T>A - - PIGA_000036 Variant in a highly conserved residue. It was absent in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that mutant protein partially restored GPI-anchored proteins expression in PIGA-null cells. PubMed: Kato et al 2014 - rs201119959 Unknown yes - - 0 - Philippe Campeau
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