Genomic variant #0000048522

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32673381C>T
Reference Copied from the Exome Variant Server
DB-ID IQCC_000080
Frequency 8/13006
Freq. EA 6/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.1099C>T r.(?) p.(Arg367*)