Genomic variant #0001496068

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.57500084C>T
Reference Copied from the Exome Variant Server
DB-ID POLR2C_000028
Frequency 4/12996
Freq. EA 0/8600
Freq. AA 4/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POLR2C NM_032940.2 ?/? c.206-3C>T r.spl? p.?