Genomic variant #0001956187

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19363875_19363876del
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000009
Frequency 1316/4560
Freq. EA 763/3050
Freq. AA 553/1510
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.57+1663_57+1664del r.(=) p.(=)