Genomic variant #0000247464

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85262220C>T
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000011
Frequency 1/11934
Freq. EA 1/8210
Freq. AA 0/3724
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.266C>T r.(?) p.(Thr89Met)