Genomic variant #0000123007

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.154247543C>G
Reference Copied from the Exome Variant Server
DB-ID HAX1_000034
Frequency 1/4566
Freq. EA 1/3182
Freq. AA 0/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAX1 NM_006118.3 ?/? c.556+66C>G r.(=) p.(=)