Genomic variant #0001971100

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67426376_67426381del
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000070
Frequency 19/10205
Freq. EA 16/6484
Freq. AA 3/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.933+34_933+39del r.(=) p.(=)