Genomic variant #0001109380

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347509C>G
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000032
Frequency 1/12118
Freq. EA 1/8260
Freq. AA 0/3858
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.313-43C>G r.(=) p.(=)