Genomic variant #0001109397

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347930G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000048
Frequency 2/12188
Freq. EA 2/8284
Freq. AA 0/3904
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.614G>A r.(?) p.(Arg205Gln)