Genomic variant #0001158650

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125505281T>C
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000032
Frequency 2/12946
Freq. EA 2/8576
Freq. AA 0/4370
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.614-43T>C r.(=) p.(=)