Genomic variant #0000475281

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.39314460C>T
Reference Copied from the Exome Variant Server
DB-ID RFC1_000137
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RFC1 NM_002913.4 ?/? c.1295G>A r.(?) p.(Arg432His)