Genomic variant #0001933985

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.42003296_42003298del
Reference Copied from the Exome Variant Server
DB-ID DESI1_000025
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DESI1 NM_015704.2 ?/? c.148_150del r.(?) p.(Phe50del)