Genomic variant #0001988312

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.134988638del
Reference Copied from the Exome Variant Server
DB-ID SAGE1_000091
Frequency 403/10205
Freq. EA 275/6484
Freq. AA 128/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAGE1 NM_018666.2 ?/? c.664del r.(?) p.(Leu222Cysfs*2)