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     
./. 6 c.1355_1356insAA r.(?) p.(Asp452Glufs*5) - pathogenic g.15339728_15339729insTT g.15321606_15321607insTT - - PIGA_000028 This insertion was found with a duplication of the preceding 32 nucleotides. This insertion causes a frameshift and a stop codon at 452 postion. 90% of his PMN were deficient in CD59, CD24, and CD16. PubMed: Nafa et al 1998 - - Somatic yes - - 0 - Philippe Campeau
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