Genomic variant #0001954298

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.15339786C>T
Reference Copied from the Exome Variant Server
DB-ID PIGA_000006
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 ?/? c.1297G>A r.(?) p.(Val433Ile)