Genomic variant #0001971128

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.67494536C>T
Reference Copied from the Exome Variant Server
DB-ID OPHN1_000104
Frequency 1/10560
Freq. EA 1/6727
Freq. AA 0/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/? c.384+44G>A r.(=) p.(=)