Variant #0000438434 (NC_000023.10:g.15342911A>G, PIGA(NM_002641.3):c.1064T>C)

Individual ID 00207517
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.15342911A>G
DNA change (hg38) g.15324789A>G
Published as -
ISCN -
DB-ID PIGA_000059
Variant remarks Heterozygous mutation.
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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.1064T>C r.(?) p.(Leu355Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208553 DNA SEQ-NG-I - Targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. PIGA 1 Philippe Campeau