Genomic variant #0001667600

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.42376654C>G
Reference Copied from the Exome Variant Server
DB-ID SETBP1_000052
Frequency 1/4566
Freq. EA 1/3182
Freq. AA 0/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SETBP1 NM_001130110.1 ?/? c.487-72541C>G r.(=) p.(=)