Genomic variant #0001158658

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125507327G>A
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000042
Frequency 1/12998
Freq. EA 1/8598
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.719-17G>A r.(=) p.(=)