Genomic variant #0001592089

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40120532C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000013
Frequency 1/12530
Freq. EA 1/8384
Freq. AA 0/4146
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.450C>T r.(=) p.(=)