Genomic variant #0000660350

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.44280868_44280885del
Reference Copied from the Exome Variant Server
DB-ID AARS2_000225
Frequency 6/12462
Freq. EA 4/8220
Freq. AA 2/4242
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.2 ?/? c.176_193del r.(?) p.(Val59_Arg65delinsGly)