Genomic variant #0001971127

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67494516T>G
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000103
Frequency 6/3599
Freq. EA 0/2390
Freq. AA 6/1209
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.384+64A>C r.(=) p.(=)