Genomic variant #0001988302

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.134988197_134988198insA
Reference Copied from the Exome Variant Server
DB-ID SAGE1_000081
Frequency 2/10205
Freq. EA 2/6484
Freq. AA 0/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAGE1 NM_018666.2 ?/? c.469_470insA r.(?) p.(His157Glnfs*5)