Genomic variant #0001109442

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65350062T>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000094
Frequency 1/12188
Freq. EA 1/8308
Freq. AA 0/3880
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1919T>A r.(?) p.(Val640Asp)