Genomic variant #0001859253

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.47700627T>C
Reference Copied from the Exome Variant Server
DB-ID CSE1L_000091
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CSE1L NM_001316.3 ?/? c.1547T>C r.(?) p.(Ile516Thr)