Genomic variant #0000660352

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.44281022_44281030del
Reference Copied from the Exome Variant Server
DB-ID AARS2_000229
Frequency 17/8988
Freq. EA 3/6110
Freq. AA 14/2878
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.2 ?/? c.31_39del r.(?) p.(Leu12_Arg14del)