Genomic variant #0001052975

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2188711C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000076
Frequency 1/12764
Freq. EA 1/8464
Freq. AA 0/4300
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.649G>A r.(?) p.(Asp217Asn)