Genomic variant #0001745371

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.19627092del
Reference Copied from the Exome Variant Server
DB-ID NDUFA13_000014
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NDUFA13 NM_015965.6 ?/? c.45del r.(?) p.(Tyr16Metfs*23)