Variant #0000052302 (NC_000023.10:g.15349802G>A, PIGA(NM_002641.3):c.251C>T)

Individual ID 00028953
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.15349802G>A
DNA change (hg38) g.15331680G>A
Published as -
ISCN -
DB-ID PIGA_000031
Variant remarks Mutation found in 5 over 36 clones. The clones carrying this mutation also carried the Thr71Ala mutation. Those mutations were found in the patient's BM before the treatment.
Reference PubMed: Nafa et al. 1998
ClinVar ID -
dbSNP ID -
Origin Somatic
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.251C>T r.(?) p.(Thr84Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028987 DNA SSCA - - PIGA 5 Philippe Campeau