Genomic variant #0000247473

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85273202G>A
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000020
Frequency 1/11836
Freq. EA 0/8166
Freq. AA 1/3670
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.427-25G>A r.(=) p.(=)