Genomic variant #0001465501

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.14014071G>T
Reference Copied from the Exome Variant Server
DB-ID ERCC4_000008
Frequency 1/12992
Freq. EA 1/8598
Freq. AA 0/4394
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ERCC4 NM_005236.2 ?/? c.49G>T r.(?) p.(Glu17*)