Genomic variant #0000247483

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85276671A>G
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000030
Frequency 1/12968
Freq. EA 1/8584
Freq. AA 0/4384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.784A>G r.(?) p.(Ser262Gly)