Genomic variant #0000603993

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.162902578C>T
Reference Copied from the Exome Variant Server
DB-ID HMMR_000083
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HMMR NM_012484.2 ?/? c.1165C>T r.(?) p.(Gln389*)