Variant #0000052311 (NC_000023.10:g.15349823C>A, PIGA(NM_002641.3):c.230G>T)

Individual ID 00028960
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.15349823C>A
DNA change (hg38) g.15331701C>A
Published as -
ISCN -
DB-ID PIGA_000035
Variant remarks Variant in a highly conserved residue. It was absent in in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that the mutant protein could partially restore GPI-anchored protein expression in PIGA-null cells.
Reference PubMed: Kato et al 2014
ClinVar ID -
dbSNP ID rs587777398
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 ./. 2 c.230G>T r.(?) p.(Arg77Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028994 DNA SEQ-NG - - PIGA 1 Philippe Campeau