Genomic variant #0001053027

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.2191992C>T
Reference Copied from the Exome Variant Server
DB-ID TH_000137
Frequency 1/12876
Freq. EA 0/8530
Freq. AA 1/4346
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TH NM_000360.3 ?/? c.91-891G>A r.(=) p.(=)