Genomic variant #0001052994

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189718C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000095
Frequency 95/12618
Freq. EA 82/8362
Freq. AA 13/4256
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.487+3G>A r.spl? p.?