Genomic variant #0000603972

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.162900498_162900499del
Reference Copied from the Exome Variant Server
DB-ID HMMR_000062
Frequency 1/12482
Freq. EA 0/8232
Freq. AA 1/4250
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HMMR NM_012484.2 ?/? c.836_837del r.(?) p.(Ile279Serfs*5)