Variant #0000356958 (NC_000023.10:g.15342986C>T, PIGA(NM_002641.3):c.989G>A)

Individual ID 00155005
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15342986C>T
DNA change (hg38) g.15324864C>T
Published as -
ISCN -
DB-ID PIGA_000051
Variant remarks -
Reference PubMed: Tarailo-Graovac et al. 2015
ClinVar ID -
dbSNP ID -
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 +?/. - c.989G>A r.(?) p.(Ser330Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155868 DNA SEQ-NG peripheral blood WES - 1 Philippe Campeau