Genomic variant #0001109398

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347936G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000050
Frequency 1/12174
Freq. EA 0/8276
Freq. AA 1/3898
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.620G>A r.(?) p.(Arg207Gln)