Genomic variant #0001954300

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.15342927G>A
Reference Copied from the Exome Variant Server
DB-ID PIGA_000008
Frequency 1/10560
Freq. EA 1/6727
Freq. AA 0/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PIGA NM_002641.3 ?/? c.1048C>T r.(?) p.(Pro350Ser)