Genomic variant #0001821870

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.76786C>T
Reference Copied from the Exome Variant Server
DB-ID DEFB125_000012
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DEFB125 NM_153325.2 ?/? c.199C>T r.(?) p.(Arg67*)