Genomic variant #0001595583

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.41116183_41116184insA
Reference Copied from the Exome Variant Server
DB-ID AARSD1_000091
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARSD1 NM_001261434.1 ?/? c.110_111insT r.(?) p.(Leu38Alafs*16)