RS1057517928 HK1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Retinitis pigmentosa 79
Hemolytic anemia due to hexokinase deficiency
Charcot-Marie-Tooth disease type 4G
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases
Neurodevelopmental disorder with visual defects and brain anomalies
Retinitis pigmentosa 79
Hemolytic anemia due to hexokinase deficiency
Charcot-Marie-Tooth disease type 4G
Neurodevelopmental disorder with visual defects and brain anomalies
Inborn genetic diseases
Neurodevelopmental disorder with visual defects and brain anomalies
Other Variants in HK1