Genomic variant #0001956182

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19363811_19363813del
Reference Copied from the Exome Variant Server
DB-ID PDHA1_000004
Frequency 14/4925
Freq. EA 8/3265
Freq. AA 6/1660
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDHA1 NM_000284.3 ?/? c.57+1599_57+1601del r.(=) p.(=)