Genomic variant #0000123030

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.154248219del
Reference Copied from the Exome Variant Server
DB-ID HAX1_000067
Frequency 1/12520
Freq. EA 0/8254
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAX1 NM_006118.3 ?/? c.*42del r.(=) p.(=)