Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Novel Changes of Unknown Significance Identified in Families with ARRP
| Family | Gene | Location | Change in cDNA, Protein |
|---|---|---|---|
| RP126 | CRB1 | Exon 8 | c.2715G>A, p.Arg905Arg |
| RP213 | ABCA4 | Exon 29 | c.4256T>C, p.Met1419Thr |
| RP119 | PDE6B | Intron 10 | c.1401+31C>A |
| RP119 | PDE6B | Intron 17 | c.2130−15G>A |
| RP160 | RGR | Exon 2 | c.123C>T, p.Phe41Phe |
| RP184 | RGR | Intron 6 | c.760-38C>T |
