Genomic variant #0001158622

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.125496748C>T
Reference Copied from the Exome Variant Server
DB-ID CHEK1_000004
Frequency 13/13000
Freq. EA 0/8598
Freq. AA 13/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CHEK1 NM_001274.5 ?/? c.65+20C>T r.(=) p.(=)