Full data view for gene PIGA

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.110T>C r.(?) p.(Met37Thr) Unknown - pathogenic g.15349943A>G g.15331821A>G - - PIGA_000057 Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG Peripheral blood WES EEOC Elder twin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy 1 Philippe Campeau
+/. 2 c.110T>C r.(?) p.(Met37Thr) Unknown - pathogenic g.15349943A>G g.15331821A>G - - PIGA_000057 Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES EEOC YoungerTwin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy 1 Philippe Campeau
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