Genomic variant #0001109387

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347646G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000039
Frequency 1/12824
Freq. EA 1/8494
Freq. AA 0/4330
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.407G>A r.(?) p.(Arg136Gln)