All variants in the PIGA gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Mutation segregated with affected males and carriers. Absent in 409 controls. Transfection of p.Arg412(∗) PIGA construct into PIGA-null cells showed partial restoration of GPI-anchored proteins, which suggest partial activity. PubMed: Johnston et al 2012 - rs387906726 Germline yes - - 0 - Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection. PubMed: Kato et al 2014 - rs387906726 Unknown yes - - 0 - Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous - - - Germline - - - 0 - Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous mutation. - - - Germline - - - 0 - Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous mutation - - - Germline - - - 0 - Philippe Campeau
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