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.1352T>C r.(?) p.(Ile451Thr) - likely pathogenic g.15339731A>G g.15321609A>G - - PIGA_000067 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.1352T>C r.(?) p.(Ile451Thr) - pathogenic g.15339731A>G g.15321609A>G - - PIGA_000067 - PubMed: Zhu 2015 - - De novo - - - 0 - Johan den Dunnen
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