Genomic variant #0000247479

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85276443T>A
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000026
Frequency 1/12206
Freq. EA 1/8310
Freq. AA 0/3896
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.602-46T>A r.(=) p.(=)