Genomic variant #0001208104

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53702253_53702256del
Reference Copied from the Exome Variant Server
DB-ID AAAS_000043
Frequency 3/12518
Freq. EA 3/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.1045_1048del r.(?) p.(Ser349Argfs*33)