Full data view for gene PIGA

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 6 c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Mutation segregated with affected males and carriers. Absent in 409 controls. Transfection of p.Arg412(∗) PIGA construct into PIGA-null cells showed partial restoration of GPI-anchored proteins, which suggest partial activity. PubMed: Johnston et al 2012 - rs387906726 Germline yes - - 0 - DNA SEQ-NG - - MCAHS2;GPIBD4 - PubMed: Johnston et al 2012 Four generation family with two female carriers and three affected males with multiple congenital anomalies-hypotonia-seizures syndrome-2. - - - - - 0 - - 1 Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) Unknown - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection. PubMed: Kato et al 2014 - rs387906726 Unknown yes - - 0 - DNA SEQ-NG - - MCAHS2;GPIBD4 - PubMed: Kato et al 2014 6-old-year patient. M - Japan - - 0 - - 1 Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES SGBS P1 PubMed: Fauth et al., 2016 - M no Bosnia and Herzegovina;Switzerland European 00y00m15d 0 - Anti-epileptic medications 1 Philippe Campeau
+/. - c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous mutation. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood - SGBS2 P2 PubMed: Fauth et al., 2016 - M no Austria;Dominican Republic - 00y03m 0 - - 1 Philippe Campeau
+/. 6 c.1234C>T r.(?) p.(Arg412*) Maternal (confirmed) - pathogenic g.15339849G>A g.15321727G>A - - PIGA_000033 Hemizygous mutation - - - Germline - - - 0 - DNA SEQ, SEQ-NG paraffin‐embedded liver tissue WES SGBS2 P3 PubMed: Fauth et al., 2016 older brother of patient 2. Stillborn at 32+2w. M no Austria;Dominican Republic - - 0 - - 1 Philippe Campeau
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