Genomic variant #0000123003

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.154247422G>A
Reference Copied from the Exome Variant Server
DB-ID HAX1_000051
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAX1 NM_006118.3 ?/? c.505-4G>A r.spl? p.?