Genomic variant #0001956191

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19367469G>C
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000013
Frequency 9/10563
Freq. EA 0/6728
Freq. AA 9/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.97G>C r.(?) p.(Asp33His)