Genomic variant #0001976280

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.83581275C>T
Reference Copied from the Exome Variant Server
DB-ID HDX_000012
Frequency 1/10559
Freq. EA 0/6726
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HDX NM_144657.4 ?/? c.1858G>A r.(?) p.(Glu620Lys)