Genomic variant #0001109430

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65349756T>G
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000082
Frequency 5042/11886
Freq. EA 3862/8144
Freq. AA 1180/3742
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.1613T>G r.(?) p.(Val538Gly)