Genomic variant #0001346379

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.81994152_81994153del
Reference Copied from the Exome Variant Server
DB-ID SEL1L_000131
Frequency 2/12492
Freq. EA 1/8230
Freq. AA 1/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SEL1L NM_005065.5 ?/? c.71-71_71-70del r.(=) p.(=)