Genomic variant #0001955139

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17394212_17394214del
Reference Copied from the Exome Variant Server
DB-ID NHS_000002
Frequency 16/2373
Freq. EA 11/1652
Freq. AA 5/721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 ?/? c.332_334del r.(?) p.(Ala117del)