Genomic variant #0001109372

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347367del
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000024
Frequency 2/11930
Freq. EA 0/8000
Freq. AA 2/3930
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.259-40del r.(=) p.(=)