Genomic variant #0001595569

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.41113319C>T
Reference Copied from the Exome Variant Server
DB-ID AARSD1_000077
Frequency 4/13006
Freq. EA 1/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARSD1 NM_001261434.1 ?/? c.221G>A r.(?) p.(Arg74His)