Genomic variant #0001158681

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125523608C>G
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000062
Frequency 20/12982
Freq. EA 18/8584
Freq. AA 2/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.1234-33C>G r.(=) p.(=)