RS397515360 CNGB3
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What This Variant Does
"rs397515360, also known as c.1148delC or p.Thr383IlefsX13, represents a rare mutation in the CNGB3 g...
Associated Conditions
Achromatopsia 3
Retinal dystrophy
Achromatopsia
Abnormality of the eye
Leber congenital amaurosis
CNGB3-related disorder
Cone-rod dystrophy
Retinitis pigmentosa
Inborn genetic diseases
Optic atrophy
Retinal disorder
Achromatopsia 3
Retinal dystrophy
Achromatopsia
Abnormality of the eye
Other Variants in CNGB3