Genomic variant #0001971091

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67416975C>T
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000061
Frequency 1/3600
Freq. EA 1/2391
Freq. AA 0/1209
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.1104+53G>A r.(=) p.(=)