Genomic variant #0001109354

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65346602C>G
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000006
Frequency 2/12074
Freq. EA 1/8252
Freq. AA 1/3822
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.158C>G r.(?) p.(Ser53Cys)