Variant #0004404860 (NC_000006.11:g.44281015T>C, NM_020745.3:c.46A>G (AARS2))

Chromosome 6
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44281015T>C
DB-ID -
dbSNP ID rs749688690
gnomAD frequency 20/207052
gnomAD homozygote count 0/103505
Average frequency (gnomAD v.2.1.1) Retrieve
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.3 ./. c.46A>G r.(?) p.(Ile16Val)