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.535A>T r.(?) p.(Asn179Tyr) - likely pathogenic g.15349518T>A g.15331396T>A - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.535A>T r.(?) p.(Asn179Tyr) - likely pathogenic g.15349518T>A g.15331396T>A - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - Philippe Campeau
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