Genomic variant #0001933979

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.42000064C>T
Reference Copied from the Exome Variant Server
DB-ID DESI1_000018
Frequency 2/13006
Freq. EA 1/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DESI1 NM_015704.2 ?/? c.274G>A r.(?) p.(Gly92Arg)