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.849-5A>G r.spl? p.(Arg283Serfs*15) - pathogenic g.15343279T>C g.15325157T>C - - PIGA_000055 Nonsense mutation - - - Germline - - - 0 - Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) - pathogenic g.15343279T>C g.15325157T>C - - PIGA_000055 Nonsense mutation. The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence. In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297 - - - Germline - - - 0 - Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) - pathogenic g.15343279T>C g.15325157T>C - - PIGA_000055 Nonsense mutation. The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence.In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297. - - - Germline - - - 0 - Philippe Campeau
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