Genomic variant #0001158685

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125525071G>C
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000066
Frequency 1/12918
Freq. EA 0/8566
Freq. AA 1/4352
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.1336-49G>C r.(=) p.(=)