Variant #0000438431 (NC_000023.10:g.15349943A>G, PIGA(NM_002641.3):c.110T>C)

Individual ID 00207513
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.15349943A>G
DNA change (hg38) g.15331821A>G
Published as -
ISCN -
DB-ID PIGA_000057 See all 2 reported entries
Variant remarks Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 +/. 2 c.110T>C r.(?) p.(Met37Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208550 DNA SEQ;SEQ-NG - WES PIGA 1 Philippe Campeau