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.278C>T r.(?) p.(Pro93Leu) - pathogenic g.15349775G>A g.15331653G>A - - PIGA_000039 This variant was not found in the dbSNP or Exome Variant Server databases, or in 100 in-house control exomes. No functional studies were performed. PubMed: van der Crabben et al 2014 - rs587777400 Germline yes - - 0 - Philippe Campeau
+/. - c.278C>T r.(?) p.(Pro93Leu) - pathogenic g.15349775G>A g.15331653G>A PIGA(NM_002641.3):c.278C>T (p.P93L) - PIGA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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