Genomic variant #0001971739

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.69459745_69459752del
Reference Copied from the Exome Variant Server
DB-ID AWAT1_000033
Frequency 3/10205
Freq. EA 2/6484
Freq. AA 1/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AWAT1 NM_001013579.2 ?/? c.793_800del r.(?) p.(Thr265Profs*21)