Genomic variant #0001158648

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125503240G>A
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000030
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.607G>A r.(?) p.(Ala203Thr)