Genomic variant #0000551247

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.60198224_60198226del
Reference Copied from the Exome Variant Server
DB-ID ERCC8_000050
Frequency 6/12498
Freq. EA 6/8234
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ERCC8 NM_000082.3 ?/? c.617+43_617+45del r.(=) p.(=)