Genomic variant #0001109422

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65349392G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000074
Frequency 1/12870
Freq. EA 1/8546
Freq. AA 0/4324
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1249G>A r.(?) p.(Glu417Lys)