Genomic variant #0001667572

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.42358538T>C
Reference Copied from the Exome Variant Server
DB-ID SETBP1_000024
Frequency 3/4566
Freq. EA 0/3182
Freq. AA 3/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SETBP1 NM_001130110.1 ?/? c.486+76741T>C r.(=) p.(=)