Genomic variant #0000247458

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85255119A>G
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000005
Frequency 2/12126
Freq. EA 0/8294
Freq. AA 2/3832
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.124A>G r.(?) p.(Thr42Ala)