Genomic variant #0001971113

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67431908G>A
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000083
Frequency 10/10553
Freq. EA 0/6719
Freq. AA 10/3834
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+42C>T r.(=) p.(=)