Genomic variant #0000123013

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.154247908C>T
Reference Copied from the Exome Variant Server
DB-ID HAX1_000046
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAX1 NM_006118.3 ?/? c.703C>T r.(?) p.(Arg235Trp)