Genomic variant #0000377116

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459813C>T
Reference Copied from the Exome Variant Server
DB-ID AMT_000072
Frequency 2/13006
Freq. EA 1/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AMT NM_000481.3 ?/? c.71G>A r.(?) p.(Arg24His)
NICN1 NM_032316.3 ?/? c.*2453G>A r.(?) p.(Arg24His)