Genomic variant #0001949347

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.1471373_1471374insT
Reference Copied from the Exome Variant Server
DB-ID IL3RA_000094
Frequency 11/12494
Freq. EA 9/8242
Freq. AA 2/4252
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IL3RA NM_001267713.1 ?/? c.356_357insT r.(?) p.(Lys120*)