Genomic variant #0001592104

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.40123913_40123914insC
Reference Copied from the Exome Variant Server
DB-ID CNP_000028
Frequency 45/11784
Freq. EA 40/7966
Freq. AA 5/3818
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CNP NM_033133.4 ?/? c.680_681insC r.(?) p.(Gly229Trpfs*3)