Genomic variant #0001956272

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19379742G>T
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000094
Frequency 2/10557
Freq. EA 1/6724
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.*1971G>T r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/? c.3680-31C>A r.(=) p.(=)