Genomic variant #0001109448

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65350320C>T
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000100
Frequency 1/12022
Freq. EA 1/8234
Freq. AA 0/3788
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.2177C>T r.(?) p.(Thr726Ile)