Genomic variant #0001971116

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67431939T>G
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000087
Frequency 19/10559
Freq. EA 14/6724
Freq. AA 5/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.702+11A>C r.(=) p.(=)