Genomic variant #0001053006

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189930_2189933del
Reference Copied from the Exome Variant Server
DB-ID TH_000105
Frequency 18/12070
Freq. EA 12/8108
Freq. AA 6/3962
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.313-38_313-35del r.(=) p.(=)