Genomic variant #0001465536

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.14020607_14020612del
Reference Copied from the Exome Variant Server
DB-ID ERCC4_000043
Frequency 2/12516
Freq. EA 2/8254
Freq. AA 0/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ERCC4 NM_005236.2 ?/? c.578_583del r.(?) p.(Pro194_Arg195del)