Genomic variant #0000054976

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.38027791_38027793del
Reference Copied from the Exome Variant Server
DB-ID DNALI1_000063
Frequency 4/12520
Freq. EA 1/8254
Freq. AA 3/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DNALI1 NM_003462.3 ?/? c.752_754del r.(?) p.(Lys253del)