Variant #0000698158 (NC_000023.10:g.15339731A>G, PIGA(NM_002641.3):c.1352T>C)

Individual ID 00314858
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.15339731A>G
DNA change (hg38) g.15321609A>G
Published as -
ISCN -
DB-ID PIGA_000067 See all 2 reported entries
Variant remarks -
Reference PubMed: Zhu 2015
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 +/. - c.1352T>C r.(?) p.(Ile451Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316032 DNA SEQ;SEQ-NG - trio WES PIGA 1 Johan den Dunnen