Genomic variant #0000247455

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.85255001T>C
Reference Copied from the Exome Variant Server
DB-ID KCMF1_000002
Frequency 1/11956
Freq. EA 0/8242
Freq. AA 1/3714
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KCMF1 NM_020122.4 ?/? c.17-11T>C r.(=) p.(=)