Genomic variant #0001053038

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2192950C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000134
Frequency 2/13002
Freq. EA 0/8598
Freq. AA 2/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.67G>A r.(?) p.(Ala23Thr)