Genomic variant #0001956232

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19376994C>A
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000052
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     
PDHA1 NM_000284.3 ?/? c.900-40C>A r.(=) p.(=)