Genomic variant #0001109446

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65350259G>C
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000098
Frequency 1/12018
Freq. EA 0/8232
Freq. AA 1/3786
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.2116G>C r.(?) p.(Val706Leu)