Variant #0000438436 (NC_000023.10:g.15339849G>A, PIGA(NM_002641.3):c.1234C>T)

Individual ID 00207519
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.15339849G>A
DNA change (hg38) g.15321727G>A
Published as -
ISCN -
DB-ID PIGA_000033 See all 5 reported entries
Variant remarks Hemizygous mutation.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
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.1234C>T r.(?) p.(Arg412*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208557 DNA SEQ;SEQ-NG Peripheral blood - PIGA 1 Philippe Campeau