Genomic variant #0001971093

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67417159del
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000063
Frequency 83/10205
Freq. EA 2/6484
Freq. AA 81/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.1026-53del r.(=) p.(=)