RS118192215 KCNQ2

Health Risk Chr 20:63438650 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Developmental and epileptic encephalopathy
7
KCNQ2-related disorder
Complex neurodevelopmental disorder
Seizures
benign familial neonatal
1
Seizure
Early-infantile DEE
Developmental and epileptic encephalopathy
7
KCNQ2-related disorder
Complex neurodevelopmental disorder
Seizures
benign familial neonatal
Population Frequencies
gnomAD ALL
100%
Other Variants in KCNQ2
rs28939683 rs74315390 rs28939684 rs74315391 rs267607198 rs74315392 rs118192244 rs118192200 rs118192217 rs118192218
Ask Dr. Hemsworth about this variant