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.355C>T r.(?) p.(Arg119Trp) - pathogenic g.15349698G>A g.15331576G>A - - PIGA_000037 Variant at a highly conserved residue. It was absent in was not found in the Exome Variant Server database or in 573 control exomes. PubMed: Kato et al 2014 - rs587777396 Unknown yes - - 0 - Philippe Campeau
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