Genomic variant #0001956193

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19367533_19367534del
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000015
Frequency 52/10200
Freq. EA 0/6480
Freq. AA 52/3720
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.117+44_117+45del r.(=) p.(=)