Genomic variant #0001109423

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65349444_65349445del
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000075
Frequency 2/12286
Freq. EA 2/8152
Freq. AA 0/4134
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1301_1302del r.(?) p.(His434Argfs*4)