CNGB3
Deellabo: | PGD DNA |
Gen (Gen Code): | CNGB3 |
Aliases Gen: | CNG channel beta-3; cone photoreceptor cGMP-gated cation channel beta-subunit; cyclic nucleotide-gated cation channel beta-3; cyclic nucleotide-gated cation channel modulatory subunit |
Gen ID (NCBI): | 54714 |
OMIM Gen ID: | 605080 |
Chromosomale locatie: | 8q21.3 |
Genetische aandoening / Analyse: | Achromatopsie type 3 (ACHM3) |
OMIM aandoening ID: | 262300 |
Overerving: | AR |
Aliases aandoening: | ACHROMATOPSIA 3; ACHM3 PINGELAPESE BLINDNESS TOTAL COLORBLINDNESS WITH MYOPIA ACHROMATOPSIA WITH MYOPIA ACHM1, FORMERLY ROD MONOCHROMATISM 1, FORMERLY ROD MONOCHROMACY 1, FORMERLY; RMCH1, FORMERLY |