Genomic variant #0001592125

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40125754C>T
Reference Copied from the Exome Variant Server
DB-ID CNP_000049
Frequency 1/12324
Freq. EA 1/8322
Freq. AA 0/4002
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.1078C>T r.(?) p.(Arg360*)