Genomic variant #0001109368

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65346903A>G
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000020
Frequency 1/12370
Freq. EA 1/8324
Freq. AA 0/4046
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.254A>G r.(?) p.(Tyr85Cys)