Genomic variant #0001667597

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.42375787del
Reference Copied from the Exome Variant Server
DB-ID SETBP1_000049
Frequency 53/6150
Freq. EA 48/4036
Freq. AA 5/2114
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SETBP1 NM_001130110.1 ?/? c.487-73408del r.(=) p.(=)