Genomic variant #0001109385

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347636G>C
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000037
Frequency 12764/12772
Freq. EA 8466/8466
Freq. AA 4298/4306
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.397G>C r.(?) p.(Val133Leu)