Genomic variant #0001956253

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19378923C>T
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000075
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.*1152C>T r.(?) p.(Ala1296Thr)
MAP3K15 NM_001001671.3 ?/? c.3886G>A r.(?) p.(Ala1296Thr)