Genomic variant #0001667571

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.42356311C>T
Reference Copied from the Exome Variant Server
DB-ID SETBP1_000023
Frequency 1/4564
Freq. EA 0/3182
Freq. AA 1/1382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SETBP1 NM_001130110.1 ?/? c.486+74514C>T r.(=) p.(=)