Genomic variant #0001109447

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65350312A>G
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000099
Frequency 1/11996
Freq. EA 0/8230
Freq. AA 1/3766
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.2169A>G r.(?) p.(Ile723Met)