Genomic variant #0001109441

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65350061G>T
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000093
Frequency 21/12188
Freq. EA 1/8308
Freq. AA 20/3880
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1918G>T r.(?) p.(Val640Phe)