Genomic variant #0000122990

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.154246217C>T
Reference Copied from the Exome Variant Server
DB-ID HAX1_000027
Frequency 48/13006
Freq. EA 0/8600
Freq. AA 48/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAX1 NM_006118.3 ?/? c.317-33C>T r.(=) p.(=)