Genomic variant #0001219696

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.58190148C>T
Reference Copied from the Exome Variant Server
DB-ID TSFM_000057
Frequency 8/13004
Freq. EA 7/8598
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ?/? c.760C>T r.(?) p.(Arg254Cys)