Genomic variant #0001109429

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65349692G>C
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000081
Frequency 51/12156
Freq. EA 0/8256
Freq. AA 51/3900
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1549G>C r.(?) p.(Gly517Arg)