Genomic variant #0000475332

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.39329343_39329345del
Reference Copied from the Exome Variant Server
DB-ID RFC1_000188
Frequency 2/12516
Freq. EA 1/8252
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RFC1 NM_002913.4 ?/? c.363_365del r.(?) p.(Ala122del)