Variant #0000052307 (NC_000023.10:g.15349979dup, PIGA(NM_002641.3):c.76dup)

Individual ID 00028957
Chromosome X
Allele Maternal (confirmed)
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.15349979dup
DNA change (hg38) g.15331857dup
Published as -
ISCN -
DB-ID PIGA_000002 See all 2 reported entries
Variant remarks This mutation was not found in the 1000 Genomes Project, dbSNP, or Exome Variant Server database. The patients had reduced CD59 surface expression.This early frameshift mutation in PIGA produces a truncated hypomorph. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line.
Reference PubMed: Belet et al 2014
ClinVar ID -
dbSNP ID rs587777397
Origin Germline
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 +/. - c.76dup r.(?) p.(Tyr26Leufs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028991 DNA SEQ-NG - - PIGA 1 Philippe Campeau