Genomic variant #0001971054

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67283798G>A
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000033
Frequency 33/10563
Freq. EA 0/6728
Freq. AA 33/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.2056C>T r.(?) p.(Pro686Ser)