Variant #0000052312 (NC_000023.10:g.15349437T>A, PIGA(NM_002641.3):c.616A>T)

Individual ID 00028961
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15349437T>A
DNA change (hg38) g.15331315T>A
Published as -
ISCN -
DB-ID PIGA_000036
Variant remarks Variant in a highly conserved residue. It was absent in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that mutant protein partially restored GPI-anchored proteins expression in PIGA-null cells.
Reference PubMed: Kato et al 2014
ClinVar ID -
dbSNP ID rs201119959
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 +/. 2 c.616A>T r.(?) p.(Ile206Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028995 DNA SEQ-NG - - PIGA 1 Philippe Campeau