Genomic variant #0001052965

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2188219C>G
Reference Copied from the Exome Variant Server
DB-ID TH_000064
Frequency 1/12928
Freq. EA 1/8572
Freq. AA 0/4356
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.739G>C r.(?) p.(Ala247Pro)