Genomic variant #0000475312

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.39325020del
Reference Copied from the Exome Variant Server
DB-ID RFC1_000168
Frequency 1/12520
Freq. EA 0/8254
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RFC1 NM_002913.4 ?/? c.660del r.(?) p.(His220Glnfs*10)