Genomic variant #0001208181

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53715192_53715193del
Reference Copied from the Exome Variant Server
DB-ID AAAS_000120
Frequency 8/12518
Freq. EA 0/8254
Freq. AA 8/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.57_58del r.(?) p.(Tyr19*)