Genomic variant #0001109358

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65346783G>C
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000010
Frequency 2/12316
Freq. EA 0/8276
Freq. AA 2/4040
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.163-29G>C r.(=) p.(=)