Genomic variant #0001668839

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.43685332del
Reference Copied from the Exome Variant Server
DB-ID HAUS1_000015
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAUS1 NM_138443.3 ?/? c.203del r.(?) p.(Ala69Profs*12)