Genomic variant #0001158682

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125523647A>G
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000063
Frequency 3/12988
Freq. EA 2/8590
Freq. AA 1/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.1240A>G r.(?) p.(Ile414Val)