Genomic variant #0001933972

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.41999391C>T
Reference Copied from the Exome Variant Server
DB-ID DESI1_000011
Frequency 6/13006
Freq. EA 6/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DESI1 NM_015704.2 ?/? c.291-6G>A r.(=) p.(=)