Variant #0000052314 (NC_000023.10:g.15342943_15342945del, PIGA(NM_002641.3):c.1030_1032del)

Individual ID 00028963
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.15342943_15342945del
DNA change (hg38) g.15324821_15324823del
Published as -
ISCN -
DB-ID PIGA_000038
Variant remarks This variant was not found in the 1000 Genomes Project or Exome Variant Server databases. CD59 surface expression was normal in red blood cells, however, other GPI-anchored proteins were reduced in granulocytes.
Reference PubMed: Swoboda et al 2014
ClinVar ID -
dbSNP ID rs587777399
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 +/. 4 c.1030_1032del r.(?) p.(Leu344del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028997 DNA SEQ-NG - - PIGA 1 Philippe Campeau