All variants in the PIGA gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.55C>T r.(?) p.(Arg19Trp) - benign g.15349998G>A g.15331876G>A PIGA(NM_002641.3):c.55C>T (p.R19W) - PIGA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.55C>T r.(?) p.(Arg19Trp) - benign g.15349998G>A g.15331876G>A - - PIGA_000046 66 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 66/2795 individuals - 0 - Mohammed Faruq
-/. - c.55C>T r.(?) p.(Arg19Trp) - benign g.15349998G>A g.15331876G>A - - PIGA_000046 44 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 44/2795 individuals - 0 - Mohammed Faruq
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