Genomic variant #0001971112

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67431899A>G
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000082
Frequency 1/10537
Freq. EA 0/6704
Freq. AA 1/3833
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+51T>C r.(=) p.(=)