Genomic variant #0001052974

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2188707G>A
Reference Copied from the Exome Variant Server
DB-ID TH_000075
Frequency 2/12800
Freq. EA 0/8478
Freq. AA 2/4322
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.653C>T r.(?) p.(Pro218Leu)