Genomic variant #0001109382

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347583C>T
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000034
Frequency 1/12398
Freq. EA 1/8328
Freq. AA 0/4070
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.344C>T r.(?) p.(Thr115Met)