Genomic variant #0001956254

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19378963_19378964del
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000076
Frequency 99/10203
Freq. EA 88/6482
Freq. AA 11/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.*1192_*1193del r.(=) p.(=)
MAP3K15 NM_001001671.3 ?/? c.3858-13_3858-12del r.(=) p.(=)