Genomic variant #0000306745

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.202137471_202137474del
Reference Copied from the Exome Variant Server
DB-ID CASP8_000043
Frequency 3/12520
Freq. EA 3/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CASP8 NM_001228.4 ?/? c.618_621del r.(?) p.(Ile207Thrfs*15)