Genomic variant #0001971073

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67316797C>T
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000045
Frequency 1/10563
Freq. EA 0/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.1601G>A r.(?) p.(Arg534Lys)