Genomic variant #0001053002

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2189811G>A
Reference Copied from the Exome Variant Server
DB-ID TH_000103
Frequency 2/12932
Freq. EA 1/8572
Freq. AA 1/4360
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.397C>T r.(?) p.(Arg133Cys)