Genomic variant #0001053001

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189810C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000102
Frequency 1/12932
Freq. EA 0/8570
Freq. AA 1/4362
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.398G>A r.(?) p.(Arg133His)