Full data view for gene PIGA

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     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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VIP     

Data_av     

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Panel size     

Owner     
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - pathogenic g.15343279T>C g.15325157T>C - - PIGA_000055 Nonsense mutation - - - Germline - - - 0 - DNA SEQ-NG Peripheral blood - MCAHS2;GPIBD4 IV:4 PubMed: Yang et al., 2018 WES performed on two trios (the proband's family and his affected maternal cousin's family) from a nonconsanguineous Chinese family pedigree with hypotonia‐encephalopathy‐seizures disease history and putative X‐linked recessive inheritance. IV:4 is the second son of healthy parent. M no China Chinese 00y02m 0 - - 1 Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - 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 - DNA SEQ-NG Peripheral blood - MCAHS2;GPIBD4 IV:2 PubMed: Yang et al., 2018 Maternal cousin of individual IV:4 from the same paper. M no China Chinese - 0 - - 1 Philippe Campeau
+/. - c.849-5A>G r.spl? p.(Arg283Serfs*15) Unknown - 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 - DNA SEQ, SEQ-NG Peripheral blood WES MCAHS2;GPIBD4 III:5 PubMed: Yang et al., 2018 Uncle of individual IV:2 (brother of IV:2's mother). M no China Chinese 01y 0 - - 1 Philippe Campeau
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