Genomic variant #0001158679

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125523594T>C
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000060
Frequency 1/12980
Freq. EA 1/8582
Freq. AA 0/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.1234-47T>C r.(=) p.(=)