Genomic variant #0000660294

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.44274791C>G
Reference Copied from the Exome Variant Server
DB-ID AARS2_000180
Frequency 221/13006
Freq. EA 1/8600
Freq. AA 220/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.2 ?/? c.1041-23G>C r.(=) p.(=)