Genomic variant #0001971087

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67414227A>G
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000054
Frequency 521/3600
Freq. EA 3/2391
Freq. AA 518/1209
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.1138+80T>C r.(=) p.(=)