Genomic variant #0000054949

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.38027264C>A
Reference Copied from the Exome Variant Server
DB-ID DNALI1_000036
Frequency 3/13006
Freq. EA 3/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DNALI1 NM_003462.3 ?/? c.570C>A r.(?) p.(Tyr190*)