Variant #0000393212 (NC_000023.10:g.15349979dup, PIGA(NM_002641.3):c.76dup)

Individual ID 00172472
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.15349979dup
DNA change (hg38) g.15331857dup
Published as 76dupT
ISCN -
DB-ID PIGA_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Claes 1997
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 Guy Froyen
Database submission license No license selected
Created by Guy Froyen
Options




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     
0000173355 DNA;RNA RT-PCR;SEQ - - - 1 Guy Froyen