Genomic variant #0000247463

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85262212G>A
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000010
Frequency 1/11918
Freq. EA 1/8198
Freq. AA 0/3720
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.258G>A r.(?) p.(Met86Ile)