All variants in the PIGA gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.293A>C r.(?) p.(Tyr98Ser) - pathogenic g.15349760T>G g.15331638T>G PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser) - PIGA_000058 Missense variant. This variant affects a highly conserved amino acid in a known functional domain of PIGA and causes a physiochemical change which is predicted in silico to be pathogenic (Polyphen-Probably damaging 0.976; SIFT-deleterious 0.01). - - - Germline - - - 0 - Philippe Campeau
Legend   How to query