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.251C>T r.(?) p.(Thr84Ile) - pathogenic g.15349802G>A g.15331680G>A - - PIGA_000031 Mutation found in 5 over 36 clones. The clones carrying this mutation also carried the Thr71Ala mutation. Those mutations were found in the patient's BM before the treatment. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - Philippe Campeau
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