Genomic variant #0001109390

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347733G>T
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000042
Frequency 2/12982
Freq. EA 2/8586
Freq. AA 0/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.491+3G>T r.spl? p.?