Genomic variant #0001109377

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347431G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000029
Frequency 3/12186
Freq. EA 0/8262
Freq. AA 3/3924
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.283G>A r.(?) p.(Ala95Thr)