All variants in the PIGA gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.76dup r.(?) p.(Tyr26Leufs*4) - pathogenic g.15349979dup g.15331857dup - - PIGA_000002 This mutation was not found in the 1000 Genomes Project, dbSNP, or Exome Variant Server database. The patients had reduced CD59 surface expression.This early frameshift mutation in PIGA produces a truncated hypomorph. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line. PubMed: Belet et al 2014 - rs587777397 Germline yes - - 0 - Philippe Campeau
./. - c.76dup r.(?) p.(Tyr26Leufs*4) - likely pathogenic g.15349979dup g.15331857dup 76dupT - PIGA_000002 - PubMed: Claes 1997 - - Germline - - - 0 - Guy Froyen
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