Genomic variant #0000324597

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.227661399_227661401del
Reference Copied from the Exome Variant Server
DB-ID IRS1_000089
Frequency 637/12514
Freq. EA 343/8248
Freq. AA 294/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IRS1 NM_005544.2 ?/? c.2054_2056del r.(?) p.(Ser686del)