Genomic variant #0001971069

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67316673_67316674del
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000039
Frequency 3/10205
Freq. EA 1/6484
Freq. AA 2/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.1686+38_1686+39del r.(=) p.(=)