Genomic variant #0001988355

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.134990380G>C
Reference Copied from the Exome Variant Server
DB-ID SAGE1_000133
Frequency 1/10563
Freq. EA 1/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAGE1 NM_018666.2 ?/? c.1292G>C r.(?) p.(Arg431Thr)