Genomic variant #0001052993

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189453G>A
Reference Copied from the Exome Variant Server
DB-ID TH_000094
Frequency 7/12996
Freq. EA 0/8594
Freq. AA 7/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.488-44C>T r.(=) p.(=)